NM_000330.4(RS1):c.419G>A (p.Gly140Glu) AND Juvenile retinoschisis

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Jul 24, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003230401.9

Allele description [Variation Report for NM_000330.4(RS1):c.419G>A (p.Gly140Glu)]

NM_000330.4(RS1):c.419G>A (p.Gly140Glu)

Genes:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_000330.4(RS1):c.419G>A (p.Gly140Glu)

Other names:

NP_000321.1:p.(Gly140Glu)

HGVS:

NC_000023.11:g.18644533C>T
NG_008475.1:g.223929C>T
NG_008659.3:g.37916G>A
NM_000330.4:c.419G>AMANE SELECT
NM_001037343.2:c.2714-1474C>T
NM_003159.3:c.2714-1474C>T
NP_000321.1:p.Gly140Glu
NP_000321.1:p.Gly140Glu
LRG_702t1:c.419G>A
LRG_702:g.37916G>A
LRG_702p1:p.Gly140Glu
NC_000023.10:g.18662653C>T
NM_000330.3:c.419G>A
O15537:p.Gly140Glu

Protein change:

G140E

Links:

UniProtKB: O15537#VAR_008229; dbSNP: rs61752157

NCBI 1000 Genomes Browser:

rs61752157

Molecular consequence:

NM_001037343.2:c.2714-1474C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_003159.3:c.2714-1474C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000330.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Juvenile retinoschisis (RS1)
Synonyms:: XJR; X-linked retinoschisis; Retinoschisis juvenile X chromosome-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010725; MedGen: C3714753; Orphanet: 792; OMIM: 312700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003929394	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 2, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004030318	Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 24, 2023)	germline	research	PubMed (2) [See all records that cite these PMIDs] 36909829, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003929394

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 2, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004030318

Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 24, 2023)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.

Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C.

PNAS Nexus. 2023 Mar;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043.

PubMed [citation]

PMID:: 36909829
PMCID:: PMC10003751

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV003929394.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel, SCV004030318.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

Description

Clinical significance based on ACMG v2.0

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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