ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2187C>T (p.Cys729=) (rs749942058)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518368 SCV000615069 likely benign not specified 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001201561 SCV001372637 uncertain significance Hyperkalemic Periodic Paralysis Type 1 2019-11-01 criteria provided, single submitter clinical testing This sequence change affects codon 729 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 (rs749942058, ExAC 0.03%). This variant has been observed in an individual affected with clinical features of periodic paralysis (Invitae). ClinVar contains an entry for this variant (Variation ID: 448265). 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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