ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)

dbSNP: rs2144774799
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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 RCV003041322 SCV003442457 uncertain significance Familial hyperkalemic periodic paralysis 2023-06-13 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 2138097). This missense change has been observed in individuals with clinical features of paramyotonia congenita (PMID: 22094069; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1461 of the SCN4A protein (p.Leu1461Pro).
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003041322 SCV004806519 likely pathogenic Familial hyperkalemic periodic paralysis 2024-03-26 criteria provided, single submitter clinical testing

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