ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.4812C>T (p.Gly1604=) (rs773016454)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528330 SCV000637163 uncertain significance Brugada syndrome 2017-04-19 criteria provided, single submitter clinical testing This sequence change affects codon 1605 of the SCN5A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN5A protein. The frequency data for this variant (rs773016454) 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 individuals with a SCN5A-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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