ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1821C>T (p.Gly607=) (rs753835985)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182907 SCV000235297 benign not specified 2014-09-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000535810 SCV000637089 uncertain significance Brugada syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change affects codon 607 of the SCN5A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN5A protein. This variant is present in population databases (rs753835985, ExAC 0.009%). This variant has not been reported in the literature in individuals with an SCN5A-related disease. ClinVar contains an entry for this variant (Variation ID: 201416). 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, this variant has uncertain impact on SCN5A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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