ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2830_2831del (p.Phe944fs)

dbSNP: rs2144786506
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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 RCV001919623 SCV002193162 pathogenic Familial hyperkalemic periodic paralysis 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe944Leufs*4) in the SCN4A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN4A are known to be pathogenic (PMID: 26700687).

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