ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.3512_3513GT[1] (p.Val1172fs) (rs794728919)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183161 SCV000235577 pathogenic not provided 2018-06-18 criteria provided, single submitter clinical testing Although the c.3517_3518delGT pathogenic variant in the SCN5A gene has not been reported to our knowledge, this variant has been observed to segregate with Brugada syndrome in at least four affected individuals tested at an outside laboratory or GeneDx. Additionally, the c.3517_3518delGT variant causes a shift in reading frame starting at codon valine 1173, changing it to a proline, and creating a premature stop codon at position 67 of the new reading frame, denoted p.Val1173ProfsX67. 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 HGMD in association with SCN5A-related disorders (Stenson et al., 2014). Furthermore, c.3517_3518delGT has not been observed in large population cohorts (Lek et al., 2016).

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