ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796061 SCV000935553 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2018-11-29 criteria provided, single submitter clinical testing This sequence change affects codon 1313 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 is present in population databases (rs769542012, ExAC 0.02%). This variant has not been reported in the literature in individuals with SCN4A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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