ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4301C>A (p.Ser1434Tyr)

dbSNP: rs1908553663
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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 RCV001239764 SCV001412661 uncertain significance Familial hyperkalemic periodic paralysis 2022-09-01 criteria provided, single submitter clinical testing This variant disrupts the p.Ser1434 amino acid residue in SCN4A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23771340, 29111379; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1434 of the SCN4A protein (p.Ser1434Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. ClinVar contains an entry for this variant (Variation ID: 965335). 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 disruptive. 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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