ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1753del (p.His585fs) (rs794728910)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183150 SCV000235566 pathogenic not provided 2015-05-20 criteria provided, single submitter clinical testing Although the c.1753delC mutation in the SCN5A gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Histidine585, changing it to a Threonine, and creating a premature stop codon at position 38 of the new reading frame, denoted p.His585ThrfsX38. This mutation 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 mutations in the SCN5A gene have been reported in association with Brugada syndrome or other SCN5A-related arrhythmias. In summary, c.1753delC in the SCN5A gene is interpreted as a disease-causing mutation.
Invitae RCV000695741 SCV000824258 pathogenic Brugada syndrome 2018-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His585Thrfs*38) in the SCN5A gene. It is expected to result in an absent or disrupted protein product. 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 disease. ClinVar contains an entry for this variant (Variation ID: 201557). Loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). For these reasons, this variant has been classified as Pathogenic.

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