ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.496G>A (p.Val166Ile)

gnomAD frequency: 0.00003  dbSNP: rs140314864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002105843 SCV002403458 likely benign Atrial fibrillation, familial, 14 2022-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046293 SCV004050975 likely benign Cardiovascular phenotype 2023-08-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003984195 SCV004797200 likely benign SCN2B-related disorder 2023-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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