ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3910_3912del

dbSNP: rs1326940129
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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 RCV001246463 SCV001419820 uncertain significance Familial hyperkalemic periodic paralysis 2019-08-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SCN4A-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.3910_3912del, results in the deletion of 1 amino acid of the SCN4A protein (p.Lys1304del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of this variant is currently unknown. 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.

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