ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) (rs776181227)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552267 SCV000658536 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-11-09 criteria provided, single submitter clinical testing This sequence change deletes 18 nucleotides from exon 14 of the SCN4A mRNA (c.2585_2602del). This leads to the deletion of 6 amino acid residue(s) in the SCN4A protein (p.Asp862_Ala867del) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs776181227) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a SCN4A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, this is an in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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