ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.1513T>C (p.Phe505Leu)

gnomAD frequency: 0.00001  dbSNP: rs771671647
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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 RCV001247035 SCV001420432 uncertain significance Brugada syndrome 2019-10-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN10A-related conditions. This variant is present in population databases (rs771671647, ExAC 0.007%). This sequence change replaces phenylalanine with leucine at codon 505 of the SCN10A protein (p.Phe505Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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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