ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs)

dbSNP: rs794728918
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183160 SCV000235576 pathogenic not provided 2012-12-21 criteria provided, single submitter clinical testing Although the c.3491dupC variant in the SCN5A gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Glutamic Acid 1165, changing it to an Arginine, and creating a premature stop codon at position 6 of the new reading frame, denoted p.Glu1165ArgfsX6. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the SCN5A gene have been reported in association with SCN5A-related arrhythmia. In summary, c.3491dupC in the SCN5A gene is interpreted as a pathogenic variant.
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001258367 SCV001435338 pathogenic Brugada syndrome 1 2020-08-19 criteria provided, single submitter clinical testing

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