ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3098T>A (p.Leu1033Gln)

dbSNP: rs751664345
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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 RCV001240563 SCV001413523 uncertain significance Brugada syndrome 2020-01-19 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with SCN10A-related conditions. This sequence change replaces leucine with glutamine at codon 1033 of the SCN10A protein (p.Leu1033Gln). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is present in population databases (rs751664345, ExAC 0.01%).

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