ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.104del (p.Gly35fs) (rs1060501142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456961 SCV000545067 pathogenic Brugada syndrome 2016-08-15 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 2 of the SCN5A mRNA (c.104delG), causing a frameshift at codon 35. This creates a premature translational stop signal (p.Gly35Alafs*62) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). This particular variant has been reported in the literature (PMID: 19632629). This variant is also known as R34fs/60 in the literature. For these reasons, this variant has been classified as Pathogenic.

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