ClinVar Miner

Submissions for variant NM_000165.5(GJA1):c.758C>T (p.Ala253Val)

gnomAD frequency: 0.00930  dbSNP: rs17653265
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125244 SCV000168685 benign not specified 2014-05-16 criteria provided, single submitter clinical testing 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.
Invitae RCV000233670 SCV000283684 benign Oculodentodigital dysplasia, autosomal recessive 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000125244 SCV000302783 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000399665 SCV000459828 likely benign Oculodentodigital dysplasia 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.
CeGaT Center for Human Genetics Tuebingen RCV001572911 SCV002586138 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing GJA1: PM5, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572911 SCV001798004 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125244 SCV001924516 benign not specified no assertion criteria provided clinical testing

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