ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.2617G>A (p.Val873Met)

gnomAD frequency: 0.00004  dbSNP: rs764470746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000795258 SCV000934707 uncertain significance Brugada syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 873 of the SCN10A protein (p.Val873Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs764470746, ExAC 0.002%). 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: "Deleterious"; PolyPhen-2: "Probably 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.
GeneDx RCV001759500 SCV001985266 uncertain significance not provided 2021-05-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Mayo Clinic Laboratories, Mayo Clinic RCV001759500 SCV004226083 uncertain significance not provided 2022-04-18 criteria provided, single submitter clinical testing BS2, PP3
Ambry Genetics RCV004986603 SCV005499954 uncertain significance Cardiovascular phenotype 2024-08-14 criteria provided, single submitter clinical testing The c.2617G>A (p.V873M) alteration is located in exon 15 (coding exon 15) of the SCN10A gene. This alteration results from a G to A substitution at nucleotide position 2617, causing the valine (V) at amino acid position 873 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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