ClinVar Miner

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

gnomAD frequency: 0.00365  dbSNP: rs80358202
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Total submissions: 6
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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.
Invitae 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
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

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