ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2008_2009delinsAG (p.Ser670=)

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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 RCV003617253 SCV004524485 uncertain significance Hyperkalemic periodic paralysis 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change affects codon 670 of the SCN4A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN4A protein.

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