ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.632T>G (p.Val211Gly)

gnomAD frequency: 0.00001  dbSNP: rs750969469
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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 RCV000695978 SCV000824519 uncertain significance Brugada syndrome 7 2018-03-15 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 211 of the SCN3B protein (p.Val211Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs750969469, ExAC 0.009%). This variant has not been reported in the literature in individuals with SCN3B-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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