ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5216_5217delinsTT (p.Asp1739Val)

dbSNP: rs1575916146
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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 RCV000794772 SCV000934201 uncertain significance Brugada syndrome 2022-03-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1739 of the SCN10A protein (p.Asp1739Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with sudden cardiac arrest (PMID: 30403391). ClinVar contains an entry for this variant (Variation ID: 641515). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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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