ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3898CAG[1] (p.Gln1301del)

dbSNP: rs752135284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415927 SCV000493250 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV003505109 SCV004297510 uncertain significance Hyperkalemic periodic paralysis 2023-07-18 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. This variant has been observed in individual(s) with clinical features of a muscular condition (PMID: 26036855). This variant is present in population databases (rs752135284, gnomAD 0.001%). This variant, c.3901_3903del, results in the deletion of 1 amino acid(s) of the SCN4A protein (p.Gln1301del), but otherwise preserves the integrity of the reading frame.

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