ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5459C>T (p.Ser1820Phe)

dbSNP: rs2063107708
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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 RCV001302619 SCV001491833 uncertain significance Brugada syndrome 2022-03-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1005695). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1820 of the SCN10A protein (p.Ser1820Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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