ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) (rs1567818014)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688575 SCV000816193 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-05-16 criteria provided, single submitter clinical testing This sequence change affects codon 1240 of the SCN4A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN4A protein. This variant also falls at the last nucleotide of exon 19 of the SCN4A coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN4A-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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