ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5089G>A (p.Val1697Ile)

gnomAD frequency: 0.00850  dbSNP: rs77804526
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230812 SCV000289565 benign Brugada syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000438285 SCV000520916 benign not specified 2016-10-04 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.
CeGaT Center for Human Genetics Tuebingen RCV002274943 SCV002563758 benign not provided 2025-02-01 criteria provided, single submitter clinical testing SCN10A: BS1, BS2
Ambry Genetics RCV002338748 SCV002641900 benign Cardiovascular phenotype 2018-12-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438285 SCV005204736 likely benign not specified 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002274943 SCV005238233 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000438285 SCV001920710 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000438285 SCV001956776 benign not specified no assertion criteria provided clinical testing

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