ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=)

gnomAD frequency: 0.00431  dbSNP: rs151182542
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604833 SCV000714773 benign not specified 2017-02-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000638762 SCV000760310 benign Brugada syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331035 SCV002634281 benign Cardiovascular phenotype 2018-12-28 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.
CeGaT Center for Human Genetics Tuebingen RCV001724076 SCV004154204 benign not provided 2022-03-01 criteria provided, single submitter clinical testing SCN10A: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000604833 SCV005184571 benign not specified 2024-05-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001724076 SCV005238236 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000604833 SCV001923733 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724076 SCV001951862 likely benign not provided no assertion criteria provided clinical testing

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