ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln)

gnomAD frequency: 0.00001  dbSNP: rs1555601285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253293 SCV001428940 uncertain significance Potassium-aggravated myotonia 2017-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001879867 SCV002284331 uncertain significance Hyperkalemic periodic paralysis 2022-12-06 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1302 of the SCN4A protein (p.Lys1302Gln). 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: 976103). 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.
MGZ Medical Genetics Center RCV002290665 SCV002579024 uncertain significance Paramyotonia congenita of Von Eulenburg 2022-05-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142226 SCV003818727 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing

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