ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.348G>A (p.Ser116=)

gnomAD frequency: 0.00021  dbSNP: rs375050816
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127901 SCV000171487 benign not specified 2014-03-21 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 RCV001447787 SCV001650860 likely benign Brugada syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001701522 SCV002063754 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing SCN1B: BP4, BP7
Ambry Genetics RCV002453456 SCV002612824 likely benign Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Clinical Genetics, Academic Medical Center RCV000127901 SCV001920715 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701522 SCV001929381 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001701522 SCV001955177 likely benign not provided no assertion criteria provided clinical testing

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