Submissions for variant NM_005267.5(GJA8):c.741T>G (p.Ile247Met)

gnomAD frequency: 0.00365  dbSNP: rs80358202

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000009261	SCV000348148	likely benign	Cataract 1 multiple types	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000009261	SCV003029242	benign	Cataract 1 multiple types	2023-11-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001253880	SCV004124552	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	GJA8: BS1, BS2
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania	RCV000009261	SCV005081766	likely benign	Cataract 1 multiple types	2023-01-21	criteria provided, single submitter	curation	Variant identified and curated during a GJA8 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: BS1, BP4, BP5. Original variant report: PMID:11846744;1975179;23508780. The cataract phenotype/s reported for this variant are: Pulverulent, and diffuse white opacities. Proband reported with this variant has an alternate variant in CRYBB1 reported to be causative. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320
OMIM	RCV000009261	SCV000029479	pathogenic	Cataract 1 multiple types	2001-12-01	no assertion criteria provided	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001253880	SCV001797347	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001253880	SCV001967284	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752694	SCV005351808	benign	GJA8-related disorder	2024-06-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).