ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.338A>G (p.Tyr113Cys)

dbSNP: rs1246786495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064469 SCV001229374 uncertain significance Brugada syndrome 5 2022-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 858574). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 113 of the SCN1B protein (p.Tyr113Cys).

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