ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3509-3T>C

gnomAD frequency: 0.00001  dbSNP: rs924305428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003541107 SCV001203872 uncertain significance not provided 2020-08-03 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the SCN5A gene. It does not directly change the encoded amino acid sequence of the SCN5A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN5A-related conditions. 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 is not likely to affect RNA splicing, 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.
Color Diagnostics, LLC DBA Color Health RCV001842587 SCV001354458 likely benign Cardiac arrhythmia 2018-12-01 criteria provided, single submitter clinical testing

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