ClinVar Genomic variation as it relates to human health
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
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.
Pathogenic(4); Likely pathogenic(3); Uncertain significance(9); Benign(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
Variation ID: 209138 Accession: VCV000209138.51
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q34 7: 143321432 (GRCh38) [ NCBI UCSC ] 7: 143018525 (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 Sep 29, 2015 May 7, 2024 Mar 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000083.3:c.501C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000074.3:p.Phe167Leu missense NR_046453.2:n.603C>G non-coding transcript variant NC_000007.14:g.143321432C>G NC_000007.13:g.143018525C>G NG_009815.2:g.10307C>G P35523:p.Phe167Leu - Protein change
- F167L
- Other names
- -
- Canonical SPDI
- NC_000007.14:143321431:C:G
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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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0.00080 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00075
1000 Genomes Project 30x 0.00078
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00100
Exome Aggregation Consortium (ExAC) 0.00109
The Genome Aggregation Database (gnomAD), exomes 0.00117
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00138
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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CLCN1 | - | - |
GRCh38 GRCh37 |
1368 | 1516 |
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 (1) |
criteria provided, single submitter
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Jul 9, 2015 | RCV000191068.3 | |
Conflicting interpretations of pathogenicity (7) |
criteria provided, conflicting classifications
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Mar 1, 2024 | RCV000191070.13 | |
Benign (1) |
criteria provided, single submitter
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Mar 6, 2018 | RCV000343760.6 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jan 23, 2015 | RCV000415172.3 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Jan 15, 2024 | RCV000479583.5 | |
Uncertain significance (2) |
criteria provided, single submitter
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Nov 1, 2022 | RCV000556194.10 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Mar 29, 2023 | RCV000711233.29 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 25, 2021 | RCV001753591.2 |
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
(Jul 09, 2015)
|
criteria provided, single submitter
Method: clinical testing
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Congenital myotonia, autosomal dominant form
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
Baylor Genetics
Study: Adult_WES
Accession: SCV000245460.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
This variant has been previously reported as disease-causing in a recessive state, so heterozygotes would be carriers.
Number of individuals with the variant: 17
Sex: mixed
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Uncertain significance
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Congenital myotonia, autosomal recessive form
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001137531.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Uncertain significance
(Aug 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
Accession: SCV002583811.1
First in ClinVar: Oct 22, 2022 Last updated: Oct 22, 2022 |
Comment:
BP4
|
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Uncertain significance
(Nov 01, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000636336.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 167 of the CLCN1 protein (p.Phe167Leu). … (more)
This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 167 of the CLCN1 protein (p.Phe167Leu). This variant is present in population databases (rs149729531, gnomAD 0.8%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with autosomal recessive myotonia congenita (Becker disease), and often co-occurs (likely on the same chromosome) with p.Arg105Cys (PMID: 17654559, 18337730, 21221019, 22094069, 22521272, 22641783, 23113340, 23739125, 24037712, 24304580, 24349310, 24452722, 27199537). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 209138). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CLCN1 function (PMID: 10690989, 23933576, 24304580, 26510092). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
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Uncertain significance
(-)
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criteria provided, single submitter
Method: clinical testing
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Congenital myotonia, autosomal recessive form
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Study: Adult_WES
Accession: SCV000245462.3 First in ClinVar: Sep 29, 2015 Last updated: Mar 18, 2023 |
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Pathogenic
(Aug 04, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics
Accession: SCV000841565.4
First in ClinVar: Oct 20, 2018 Last updated: Jan 26, 2024 |
Comment:
This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. Therefore, the frequency of this variant in the … (more)
This variant is statistically more frequent in affected individuals than in the general population and/or healthy controls. Therefore, the frequency of this variant in the general population is consistent with pathogenicity (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). This variant has been reported in multiple families with autosomal recessive myotonia congenita (PMID: 18337730, 21221019, 24037712, 23739125). Although there are heterozygous carriers with disease, this variant has also been reported in asymptomatic individuals (PMID: 17932099, 21698652, 26510092, 7874130, 27614575). Therefore, the data only supports a recessive association with CLCN1-related conditions. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. (less)
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Uncertain significance
(Jul 21, 2022)
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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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Revvity Omics, Revvity
Accession: SCV003830777.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
|
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Uncertain significance
(Mar 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV000892807.22
First in ClinVar: Mar 31, 2019 Last updated: Apr 15, 2024 |
Comment:
CLCN1: PM3, PM2:Supporting
Number of individuals with the variant: 7
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Pathogenic
(Mar 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Congenital myotonia, autosomal recessive form
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Molecular Genetics, Royal Melbourne Hospital
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV004812673.1
First in ClinVar: Apr 15, 2024 Last updated: Apr 15, 2024 |
Comment:
This sequence change in CLCN1 is predicted to replace phenylalanine with leucine at codon 167, p.(Phe167Leu). The phenylalanine residue is moderately conserved (100 vertebrates, Multiz … (more)
This sequence change in CLCN1 is predicted to replace phenylalanine with leucine at codon 167, p.(Phe167Leu). The phenylalanine residue is moderately conserved (100 vertebrates, Multiz Alignments), and is located in the transmembrane alpha-helix C domain (PMID: 23739125, 34529042). There is a small physicochemical difference between phenylalanine and leucine. The highest population minor allele frequency in the population database gnomAD v4.0 is 0.1% (71/60,026 alleles, 1 homozygote) in the Admixed American population. This variant has been detected in the homozygous and compound heterozygous state (with at least one individual confirmed in trans with a pathogenic variant) in multiple individuals with autosomal recessive myotonia congenita (ARMC) (PMID: 22094069, 23739125, 28427807, 31544778, 33263785, 33573884, 34529042). The variant has been reported to segregate with ARMC in at least two families (PMID: 21221019). There are inconsistent reports of this variant heterozygous in association with autosomal dominant myotonia congenita (PMID: 21387378, 26510092, 27614575). This variant is also commonly reported in cis with c.313C>T p.(Arg105Cys) in individuals with ARMC (PMID: 21221019, 21387378, 22094069, 22109722, 23739125, 24349310, 28427807, 31544778, 33573884). Patch clamp assays measuring voltage-dependent activation in Xenopus oocytes and mammalian cell lines are conflicting from no obvious differences in chloride channel voltage to a modest positive shift in the voltage dependence of activation (PMID: 10690989, 23933576, 26510092, 34529042). The assay demonstrating a modest positive shift suggests the variant behaves similarly to ARMC variants without dominant-negative effects (PMID: 34529042). Computational evidence is uninformative for the missense substitution (REVEL = 576). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as PATHOGENIC. Following criteria are met: PM3_VeryStrong, PP1_Moderate. (less)
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Likely pathogenic
(-)
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criteria provided, single submitter
Method: research
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Congenital myotonia, autosomal recessive form
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences
Accession: SCV005038735.1
First in ClinVar: May 07, 2024 Last updated: May 07, 2024 |
Comment:
The c.501C>G p.(Phe167Leu)) variant was found in a heterozygous state in 1 Slovak patient with Myotonia congenita, who carried another Likely Pathogenic variant c.959C>T (p.(Ala320Val)). … (more)
The c.501C>G p.(Phe167Leu)) variant was found in a heterozygous state in 1 Slovak patient with Myotonia congenita, who carried another Likely Pathogenic variant c.959C>T (p.(Ala320Val)). c.501C>G variant is reported in the HGDM database as a disease-causing variant CM940283 and it was reported for the first time in PMID: 7874130. GnomAD ExomesVersion: 4.0 indicates the frequency of f = 0.000863. (less)
Number of individuals with the variant: 1
Secondary finding: no
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Likely pathogenic
(Jan 23, 2015)
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criteria provided, single submitter
Method: clinical testing
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Myotonia
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492914.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
|
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Likely benign
(Dec 28, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000564883.4
First in ClinVar: Apr 29, 2017 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
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Benign
(Mar 06, 2018)
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criteria provided, single submitter
Method: clinical testing
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Myotonia congenita
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000467106.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
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Uncertain significance
(-)
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criteria provided, single submitter
Method: research
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Congenital myotonia, autosomal recessive form
Affected status: unknown
Allele origin:
germline
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
Study: CSER_NCGENES_2
Accession: SCV001423853.1 First in ClinVar: Jul 25, 2020 Last updated: Jul 25, 2020 |
Comment:
The CLCN1 p.Phe167Leu (p.F167L) variant has been reported in several patients with Becker disease (PMID:26510092; 24304580; 17654559; 23739125). However, this variant has also been seen … (more)
The CLCN1 p.Phe167Leu (p.F167L) variant has been reported in several patients with Becker disease (PMID:26510092; 24304580; 17654559; 23739125). However, this variant has also been seen in unaffected individuals (PMID: 27614575). One study reported that the p.F167L variant was associated with more normal function than other deleterious variants and noted that compound heterozygous individuals with p.F167L had a more mild phenotype (PMID: 23933576). (less)
Number of individuals with the variant: 1
|
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Likely pathogenic
(Jan 01, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Congenital myotonia, autosomal recessive form
Affected status: yes
Allele origin:
unknown
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001367247.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Likely pathogenic.
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Pathogenic
(Jun 25, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Tip-toe gait
Affected status: yes
Allele origin:
germline
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
Accession: SCV001994829.1
First in ClinVar: Nov 06, 2021 Last updated: Nov 06, 2021 |
Comment:
The variant causes the exchange of phenylanaline by leucine at position 167 of the CLCN1 protein and is located in one of the transmembrane helical … (more)
The variant causes the exchange of phenylanaline by leucine at position 167 of the CLCN1 protein and is located in one of the transmembrane helical motifs that play a role in the ion selectivity of the chloride channel. (less)
Clinical Features:
Clinodactyly (present) , Brachydactyly (present) , limited range of motion of the upper ankle (present)
Age: 10-19 years
Sex: female
Method: Gene panel analysis
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Uncertain significance
(Mar 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004224117.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Number of individuals with the variant: 1
|
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Uncertain significance
(Jan 15, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004803337.1
First in ClinVar: Mar 30, 2024 Last updated: Mar 30, 2024 |
Comment:
Variant summary: CLCN1 c.501C>G (p.Phe167Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: CLCN1 c.501C>G (p.Phe167Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00086 in 1614204 control chromosomes in the gnomAD database, including 5 homozygotes. This frequency is not significantly higher than estimated for a pathogenic variant in CLCN1 causing Myotonia congenita (0.00086 vs 0.0035), allowing no conclusion about variant significance. c.501C>G has been reported in the literature at a compound heterozygous state in individuals affected with autosomal recessive Myotonia congenita (examples, Gorukmez_2023, Bozovic_2021, Suetterlin_2022, Vereb_2020). It has also been reported at a heterozygous in several individuals with autosomal dominant Myotonia congenita and often along with a pathogenic variant from another gene that may fully explain the phenotype (example, Peddareddygari_2016, Maggi_2017). These report(s) do not provide unequivocal conclusions about association of the variant with Myotonia congenita. Several publications report experimental evidence evaluating an impact on protein function. These results showed no damaging or marginal effect of this variant on the electrophysiological metrics of CLCN1 by whole-cell patch clamping in HEK293T cells or in xenopus oocytes (Desaphy_2013, Zhang_2000, Suetterlin_2022). The following publications have been ascertained in the context of this evaluation (PMID: 34106991, 23933576, 28993909, 27266866, 34529042, 10690989, 36964972). ClinVar contains an entry for this variant (Variation ID: 209138). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Affects
(Feb 20, 2024)
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no assertion criteria provided
Method: clinical testing
|
Congenital myotonia, autosomal recessive form
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV004697498.1
First in ClinVar: Mar 23, 2024 Last updated: Mar 23, 2024 |
Comment:
Advanced modeling of protein structural, functional, and spatial characteristics, amino acid conservations physicochemical variations, residues mobility, and thermodynamic stability details emerging from several studies indicate … (more)
Advanced modeling of protein structural, functional, and spatial characteristics, amino acid conservations physicochemical variations, residues mobility, and thermodynamic stability details emerging from several studies indicate that the c.501C>G missense variant behaves similarly to the wild-type, with little or no evidence supportive of a deleterious effect for the CLCN1 channel. In consistence with the findings of the current cohort it could be suggested that c.501C>G, p.(Phe167Leu) is most probably acting as a modifier of the severity of symptoms if and when affected phenotypes are generated from co-existing pathogenic variants. (less)
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not provided
(-)
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no classification provided
Method: phenotyping only
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Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Affected status: unknown
Allele origin:
unknown
|
GenomeConnect - Invitae Patient Insights Network
Accession: SCV001749580.1
First in ClinVar: Jul 18, 2021 Last updated: Jul 18, 2021 |
Comment:
Variant interpreted as Uncertain significance and reported on 07-16-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided … (more)
Variant interpreted as Uncertain significance and reported on 07-16-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. (less)
Clinical Features:
Feeding difficulties (present) , Abnormal intestine morphology (present) , Abnormal muscle physiology (present) , Abnormality of the musculature of the limbs (present) , Abnormal morphology … (more)
Feeding difficulties (present) , Abnormal intestine morphology (present) , Abnormal muscle physiology (present) , Abnormality of the musculature of the limbs (present) , Abnormal morphology of the pelvis musculature (present) (less)
Indication for testing: Diagnostic
Age: 0-9 years
Sex: female
Testing laboratory: Invitae
Date variant was reported to submitter: 2020-07-16
Testing laboratory interpretation: Uncertain significance
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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 |
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Clinical exome sequencing findings in 1589 patients. | Gorukmez O | American journal of medical genetics. Part A | 2023 | PMID: 36964972 |
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. | Suetterlin K | Brain : a journal of neurology | 2022 | PMID: 34529042 |
The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre. | Babić Božović I | PloS one | 2021 | PMID: 34106991 |
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients. | Brugnoni R | Neuromuscular disorders : NMD | 2021 | PMID: 33573884 |
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. | Vereb N | Journal of neurology | 2021 | PMID: 33263785 |
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders. | Meyer AP | Frontiers in neurology | 2020 | PMID: 32670189 |
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita. | Orsini C | Frontiers in neurology | 2020 | PMID: 32117024 |
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients. | Milla CP | Journal of genetics | 2019 | PMID: 31544778 |
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia. | Maggi L | Neurogenetics | 2017 | PMID: 28993909 |
Targeted Next Generation Sequencing in patients with Myotonia Congenita. | Ferradini V | Clinica chimica acta; international journal of clinical chemistry | 2017 | PMID: 28427807 |
Revisiting the morbid genome of Mendelian disorders. | Abouelhoda M | Genome biology | 2016 | PMID: 27884173 |
Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. | Tincheva S | Neuromuscular disorders : NMD | 2016 | PMID: 27614575 |
Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report. | Peddareddygari LR | Journal of medical case reports | 2016 | PMID: 27266866 |
Molecular diagnostic experience of whole-exome sequencing in adult patients. | Posey JE | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 26633545 |
Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. | Vindas-Smith R | Human mutation | 2016 | PMID: 26510092 |
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. | Maggi L | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2015 | PMID: 27199537 |
In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay. | Ulzi G | Molecular biology reports | 2014 | PMID: 24452722 |
Chloride channels in myotonia congenita assessed by velocity recovery cycles. | Tan SV | Muscle & nerve | 2014 | PMID: 24037712 |
CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. | Skálová D | PloS one | 2013 | PMID: 24349310 |
Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. | Lucchiari S | Journal of physiology and pharmacology : an official journal of the Polish Physiological Society | 2013 | PMID: 24304580 |
Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. | Desaphy JF | Experimental neurology | 2013 | PMID: 23933576 |
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. | Brugnoni R | Journal of human genetics | 2013 | PMID: 23739125 |
[The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. | Ivanova EA | Genetika | 2012 | PMID: 23113340 |
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. | Weinberger S | The Journal of physiology | 2012 | PMID: 22641783 |
Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. | Ulzi G | Journal of the neurological sciences | 2012 | PMID: 22521272 |
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2. | Cardani R | Journal of neurology | 2012 | PMID: 22407275 |
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. | Mazón MJ | Neuromuscular disorders : NMD | 2012 | PMID: 22094069 |
Genetic testing and counseling for hereditary neurological diseases in Mali. | Meilleur KG | Journal of community genetics | 2011 | PMID: 22109722 |
Sodium and chloride channelopathies with myositis: coincidence or connection? | Matthews E | Muscle & nerve | 2011 | PMID: 21698652 |
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. | Tan SV | Annals of neurology | 2011 | PMID: 21387378 |
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita. | Modoni A | Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society | 2011 | PMID: 21221019 |
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. | Trip J | European journal of human genetics : EJHG | 2008 | PMID: 18337730 |
Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. | Fialho D | Brain : a journal of neurology | 2007 | PMID: 17932099 |
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. | Michel P | Muscle & nerve | 2007 | PMID: 17654559 |
Acetazolamide acts directly on the human skeletal muscle chloride channel. | Eguchi H | Muscle & nerve | 2006 | PMID: 16770776 |
Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita. | Zhang J | Neurology | 2000 | PMID: 10690989 |
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. | Meyer-Kleine C | American journal of human genetics | 1995 | PMID: 8533761 |
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. | George AL Jr | Human molecular genetics | 1994 | PMID: 7874130 |
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Text-mined citations for rs149729531 ...
HelpRecord last updated May 08, 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.