ClinVar Genomic variation as it relates to human health
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
Variation ID: 2364 Accession: VCV000002364.60
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2q31.3 2: 181558617 (GRCh38) [ NCBI UCSC ] 2: 182423344 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 16, 2015 Apr 15, 2024 Mar 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_201548.5:c.769C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_963842.1:p.Arg257Ter nonsense NM_001030311.3:c.847C>T NP_001025482.1:p.Arg283Ter nonsense NM_001030312.3:c.482-8909C>T intron variant NM_001030313.3:c.614-8909C>T intron variant NM_001160277.2:c.715C>T NP_001153749.1:p.Arg239Ter nonsense NR_027689.2:n.672C>T non-coding transcript variant NR_027690.2:n.804C>T non-coding transcript variant NC_000002.12:g.181558617G>A NC_000002.11:g.182423344G>A NG_021178.2:g.103491C>T - Protein change
- R257*, R283*, R239*
- Other names
- NM_201548.4(CERKL):c.769C>T
- NP_963842.1:p.(Arg257Ter)
- Canonical SPDI
- NC_000002.12:181558616:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 30x 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00032
The Genome Aggregation Database (gnomAD) 0.00039
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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CERKL | - | - |
GRCh38 GRCh37 |
747 | 970 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic/Likely pathogenic (10) |
criteria provided, multiple submitters, no conflicts
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Jun 22, 2023 | RCV000002460.28 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Jul 24, 2023 | RCV000504646.17 | |
Pathogenic (2) |
criteria provided, single submitter
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Aug 2, 2019 | RCV000504807.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2017 | RCV000626731.10 | |
Pathogenic (4) |
criteria provided, single submitter
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Jul 24, 2023 | RCV000678538.14 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Mar 1, 2024 | RCV000725950.35 | |
Pathogenic (1) |
criteria provided, single submitter
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Aug 25, 2020 | RCV002251860.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 27, 2023 | RCV003407259.4 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Dec 16, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000701199.2
First in ClinVar: Oct 11, 2015 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 4
Sex: mixed
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Pathogenic
(Apr 27, 2017)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000425451.3
First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019 |
Comment:
The CERKL c.769C>T (p.Arg257Ter) variant, also referred to as c.847C>T (p.Arg283Ter), is a stop-gained variant and is predicted to result in a premature termination of … (more)
The CERKL c.769C>T (p.Arg257Ter) variant, also referred to as c.847C>T (p.Arg283Ter), is a stop-gained variant and is predicted to result in a premature termination of the protein. The p.Arg257Ter variant has been reported in at least five studies in which it is found in at least 24 individuals with retinitis pigmentosa including 21 in a homozygous state from 13 families, and three affected siblings from an additional family in a compound heterozygous state (Tuson et al. 2004; Avila-Fernandez et al. 2010; Gonzalez-del Pozo et al. 2011; Nishiguchi et al. 2013; van Huet et al. 2015). The variant was absent from 360 control individuals and is reported at a frequency of 0.00067 in the South Asian population of the Exome Aggregation Consortium. The variant is located in the conserved catalytic domain of the protein (Tuson et al. 2004) and is reported to segregate with disease in several families (Avila-Fernandez et al. 2010; Gonzalez-del Pozo et al. 2011). Due to the potential impact of stop-gained variants and the supporting evidence, the p.Arg257Ter variant is classified as pathogenic for recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Aug 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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See cases
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002523777.1
First in ClinVar: Jun 09, 2022 Last updated: Jun 09, 2022 |
Comment:
ACMG classification criteria: PVS1, PM3
Clinical Features:
Visual impairment (present) , Neurodevelopmental abnormality (present) , Hypotonia (present) , Joint hypermobility (present) , Abnormality of the face (present) , Movement disorder (present) , … (more)
Visual impairment (present) , Neurodevelopmental abnormality (present) , Hypotonia (present) , Joint hypermobility (present) , Abnormality of the face (present) , Movement disorder (present) , Abnormality of mental function (present) (less)
Geographic origin: Brazil
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Pathogenic
(Aug 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002572326.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
Variant summary: CERKL c.847C>T (p.Arg283X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: CERKL c.847C>T (p.Arg283X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been associated with Retinitis pigmentosa in HGMD and been classified as pathogenic in Clinvar. The variant allele was found at a frequency of 0.00035 in 248832 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in CERKL causing Retinitis Pigmentosa (0.00035 vs 0.0013), allowing no conclusion about variant significance. c.847C>T has been reported in the literature in multiple families affected with Retinitis Pigmentosa, with strong segregation of the variant with disease (eg. Tuson_2004, Aleman_2009, Khan_2013, etc). These data indicate that the variant is very likely to be associated with disease. 22 clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Apr 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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CERKL-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004113665.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The CERKL c.847C>T variant is predicted to result in premature protein termination (p.Arg283*). This variant can also be denoted as c.769C>T (p.Arg257*) in transcript NM_201548.4. … (more)
The CERKL c.847C>T variant is predicted to result in premature protein termination (p.Arg283*). This variant can also be denoted as c.769C>T (p.Arg257*) in transcript NM_201548.4. This variant has been reported many times to be causative for autosomal recessive retinitis pigmentosa (see for examples Tuson et al. 2004. PubMed ID: 14681825; Littink et al. 2010. PubMed ID: 20554613; Stone et al. 2017. PubMed ID: 28559085). This variant is reported in 0.054% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-182423344-G-A). Nonsense variants in CERKL are expected to be pathogenic, and this variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/2364/). Given the evidence, we interpret c.847C>T (p.Arg283*) as pathogenic. (less)
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Pathogenic
(Jun 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 26
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002017035.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001250001.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
CERKL: PM3:Very Strong, PVS1, PM2
Number of individuals with the variant: 3
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Pathogenic
(Jan 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Cone-rod dystrophy
Retinal pigment epithelial atrophy
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000747434.1
First in ClinVar: May 12, 2018 Last updated: May 12, 2018 |
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Pathogenic
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 26
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001136109.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Pathogenic
(Aug 02, 2019)
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criteria provided, single submitter
Method: clinical testing
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Retinal dystrophy
Affected status: yes
Allele origin:
germline
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Blueprint Genetics
Accession: SCV001239207.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020
Comment:
My Retina Tracker patient
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447689.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Cone-rod dystrophy (present)
Sex: female
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Pathogenic
(Nov 08, 2018)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 26
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001366525.2
First in ClinVar: May 12, 2018 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.
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Pathogenic
(Apr 08, 2021)
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criteria provided, single submitter
Method: research
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Retinitis pigmentosa 26
Affected status: yes
Allele origin:
germline
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Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573260.1
First in ClinVar: May 10, 2021 Last updated: May 10, 2021 |
Comment:
The CERKL c.847C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (more)
The CERKL c.847C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PS3, PM2, PM3, PP1, PP5. Based on this evidence we have classified this variant as Pathogenic. (less)
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Pathogenic
(Oct 26, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000940255.3
First in ClinVar: Aug 14, 2019 Last updated: May 10, 2021 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg283*) in the CERKL gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg283*) in the CERKL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs121909398, ExAC 0.07%). This variant has been reported as compound heterozygous or homozygous in several individuals and families affected with retinitis pigmentosa, retinal dystrophy, and cone-rod dystrophy (PMID: 14681825, 21151602, 221642182, 24625443, 25097241, 28041643). This variant is also known as Arg257* in the literature. ClinVar contains an entry for this variant (Variation ID: 2364). Loss-of-function variants in CERKL are known to be pathogenic (PMID: 14681825, 24043777). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 26
Affected status: yes
Allele origin:
germline
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Genomics England Pilot Project, Genomics England
Accession: SCV001760070.1
First in ClinVar: Jul 31, 2021 Last updated: Jul 31, 2021 |
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Pathogenic
(Apr 01, 2021)
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criteria provided, single submitter
Method: curation
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Retinitis pigmentosa
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV001950233.1
First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
Comment:
The p.Arg283Ter variant in CERKL was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics … (more)
The p.Arg283Ter variant in CERKL was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PS3, PM2, PM3, PP1, PP5. Based on this evidence we have classified this variant as Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. (less)
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Pathogenic
(May 04, 2022)
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criteria provided, single submitter
Method: curation
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Retinitis pigmentosa 26
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Accession: SCV002507076.1
First in ClinVar: May 16, 2022 Last updated: May 16, 2022 |
Comment:
The heterozygous p.Arg283Ter variant in CERKL (also referred to as p.Arg257Ter) was identified by our study, along with a likely pathogenic variant, in 1 individual … (more)
The heterozygous p.Arg283Ter variant in CERKL (also referred to as p.Arg257Ter) was identified by our study, along with a likely pathogenic variant, in 1 individual with retinitis pigmentosa 26. The variant has been reported in at least 9 individuals of Danish, Spanish, and unknown ethnicity with retinitis pigmentosa 26 (PMID: 14681825, 25097241), segregated with disease in 6 affected relatives from 2 families (PMID: 14681825), and has been identified in 0.05% (62/112768) of European non-Finnish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs121909398). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. This variant has also been reported in ClinVar (Variation ID: 2364) as pathogenic by multiple submitters and as likely pathogenic by Medical Genetics Laboratory, Kennedy Center, Juliane Marie Center, Rigshospitalet. This nonsense variant leads to a premature termination codon at position 283, which is predicted to lead to a truncated or absent protein. Loss of function of the CERKL gene is a moderately established disease mechanism in autosomal recessive retinitis pigmentosa 26. The presence of this variant in at least 8 affected homozygotes, in combination with at least 1 reported pathogenic variant, and in at least 9 individuals with retinitis pigmentosa 26 increases the likelihood that the p.Arg283Ter variant is pathogenic (Variation ID: 91393; PMID: 14681825, 25097241). In summary, this variant meets criteria to be classified as pathogenic for retinitis pigmentosa 26 in an autosomal recessive manner based on the predicted impact of the variant, segregation in multiple families, and multiple homozygous occurrences and occurrences with pathogenic CERKL variants in affected individuals. ACMG/AMP Criteria applied: PVS1_strong, PP1_strong, PM3_strong (Richards 2015). (less)
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Pathogenic
(Mar 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 26
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000894246.2
First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022 |
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Pathogenic
(Feb 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001167710.3
First in ClinVar: Mar 16, 2020 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 21151602, 29555955, 29068140, 30337596, 28157192, 15708351, 24123366, 25097241, 25525159, 14681825, 28041643, 25999674, 22164218, 24043777, 18515597, 30718709, 28559085, 31082679, 34426522, 32411380, 32036094, 32865075, 31456290, 32581362, 31589614, 33576794, 33322828, 31054281, 32037395) (less)
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Pathogenic
(Mar 23, 2022)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 26
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003836467.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Jul 24, 2023)
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criteria provided, single submitter
Method: research
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Cone-rod dystrophy
Affected status: yes
Allele origin:
germline
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Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
Accession: SCV004030372.1
First in ClinVar: Sep 03, 2023 Last updated: Sep 03, 2023
Comment:
This variant was classified as Pathogenic based on ACMG criteria: PVS1, PM2, PS4, PP5.
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Comment:
Clinical significance based on ACMG v2.0
Number of individuals with the variant: 3
Geographic origin: Portugal
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Pathogenic
(Jul 24, 2023)
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criteria provided, single submitter
Method: research
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Retinitis pigmentosa
Affected status: yes
Allele origin:
germline
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Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel
Accession: SCV004030373.1
First in ClinVar: Sep 03, 2023 Last updated: Sep 03, 2023
Comment:
This variant was classified as Pathogenic based on ACMG criteria: PVS1, PM2, PS4, PP5.
|
Comment:
Clinical significance based on ACMG v2.0
Number of individuals with the variant: 2
Geographic origin: Portugal
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Pathogenic
(Oct 01, 2013)
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no assertion criteria provided
Method: literature only
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RETINITIS PIGMENTOSA 26
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000022618.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 16, 2015 |
Comment on evidence:
In 2 unrelated Spanish families with autosomal recessive retinitis pigmentosa (RP26; 608380), Tuson et al. (2004) identified a homozygous C-to-T transition in exon 5 of … (more)
In 2 unrelated Spanish families with autosomal recessive retinitis pigmentosa (RP26; 608380), Tuson et al. (2004) identified a homozygous C-to-T transition in exon 5 of the CERKL gene, resulting in an arg257-to-ter substitution (R257X). The mutation prematurely terminated the protein within the predicted catalytic domain. Nishiguchi et al. (2013) performed whole-genome sequencing in 16 unrelated RP patients from diverse ethnic backgrounds and identified a man of mixed European ancestry who was compound heterozygous for the R257X mutation and a 1-bp deletion (420delT; 608381.0002) in the CERKL gene, predicted to cause a frameshift (Leu140fs) resulting in premature termination. His 2 affected sisters were also compound heterozygous for the mutations, whereas his unaffected mother was heterozygous for the frameshift mutation. Neither mutation was found in 95 North American or 95 Japanese controls. (less)
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Pathogenic
(Apr 01, 2018)
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no assertion criteria provided
Method: research
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Cone-rod dystrophy
Affected status: yes
Allele origin:
unknown
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Study: VeluxRD
Accession: SCV000926540.2 First in ClinVar: Jul 22, 2019 Last updated: Sep 03, 2023 |
|
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Likely pathogenic
(Apr 01, 2018)
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no assertion criteria provided
Method: research
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Retinitis pigmentosa
Affected status: yes
Allele origin:
unknown
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Study: VeluxRD
Accession: SCV000926826.2 First in ClinVar: Jul 22, 2019 Last updated: Sep 03, 2023 |
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Pathogenic
(Jun 23, 2019)
|
no assertion criteria provided
Method: research
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Cone-rod degeneration
Affected status: yes
Allele origin:
inherited
|
Sharon lab, Hadassah-Hebrew University Medical Center
Accession: SCV001160976.1
First in ClinVar: Feb 17, 2020 Last updated: Feb 17, 2020 |
|
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Pathogenic
(Jan 01, 2015)
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no assertion criteria provided
Method: research
|
Retinitis pigmentosa
Affected status: yes
Allele origin:
unknown
|
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598883.1
First in ClinVar: Sep 09, 2017 Last updated: Sep 09, 2017 |
Observation 1:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: NA
Observation 2:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: European
Observation 3:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: South East Asian
|
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Pathogenic
(Jan 01, 2015)
|
no assertion criteria provided
Method: research
|
Retinal dystrophy
Affected status: yes
Allele origin:
unknown
|
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598884.1
First in ClinVar: Sep 09, 2017 Last updated: Sep 09, 2017 |
Observation 1:
Number of individuals with the variant: 1
Sex: male
Ethnicity/Population group: European
Observation 2:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: European
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Pathogenic
(Sep 01, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Cone-rod dystrophy
Affected status: yes
Allele origin:
unknown
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Accession: SCV000804612.2
First in ClinVar: Sep 10, 2018 Last updated: Sep 10, 2018 |
Number of individuals with the variant: 1
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Retinitis pigmentosa type 26
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001463768.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001918514.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954449.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001975239.1 First in ClinVar: Oct 08, 2021 Last updated: Oct 08, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. | Peter VG | PNAS nexus | 2023 | PMID: 36909829 |
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). | Zampaglione E | Genetics in medicine : official journal of the American College of Medical Genetics | 2022 | PMID: 34906470 |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | Jespersgaard C | Scientific reports | 2019 | PMID: 30718709 |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. | Carss KJ | American journal of human genetics | 2017 | PMID: 28041643 |
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. | van Huet RA | Molecular vision | 2015 | PMID: 25999674 |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | Wang J | Investigative ophthalmology & visual science | 2014 | PMID: 25097241 |
The molecular basis of retinal dystrophies in pakistan. | Khan MI | Genes | 2014 | PMID: 24705292 |
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy. | Coppieters F | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24625443 |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. | Rodriguez-Flores JL | Human mutation | 2014 | PMID: 24123366 |
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. | Nishiguchi KM | Proceedings of the National Academy of Sciences of the United States of America | 2013 | PMID: 24043777 |
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. | González-del Pozo M | PloS one | 2011 | PMID: 22164218 |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. | Ávila-Fernández A | Molecular vision | 2010 | PMID: 21151602 |
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. | Aleman TS | Investigative ophthalmology & visual science | 2009 | PMID: 19578027 |
Characterization of a ceramide kinase-like protein. | Bornancin F | Biochimica et biophysica acta | 2005 | PMID: 15708351 |
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). | Tuson M | American journal of human genetics | 2004 | PMID: 14681825 |
- | - | - | - | PMID: 221642182 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=CERKL | - | - | - | - |
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Text-mined citations for rs121909398 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.