ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu)

dbSNP: rs1908692348
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047594 SCV001211561 uncertain significance Hyperkalemic periodic paralysis 2024-02-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1149 of the SCN4A protein (p.Val1149Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hyperkalemic periodic paralysis (PMID: 25724373). ClinVar contains an entry for this variant (Variation ID: 844682). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN4A protein function with a positive predictive value of 95%. 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.
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV001047594 SCV002600046 likely pathogenic Hyperkalemic periodic paralysis 2022-04-12 no assertion criteria provided research

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