ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.471C>T (p.Ile157=)

gnomAD frequency: 0.00014  dbSNP: rs765269835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436454 SCV000527448 likely benign not specified 2017-07-14 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 RCV001473199 SCV001677344 likely benign Brugada syndrome 5 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339050 SCV002639226 likely benign Cardiovascular phenotype 2017-06-12 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 RCV004539855 SCV004779390 likely benign SCN1B-related disorder 2019-02-21 criteria provided, single submitter 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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