ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
deCODE genetics, Amgen RCV003492863 SCV004022241 likely pathogenic Brugada syndrome 1; Long QT syndrome 3 2023-07-21 no assertion criteria provided research The variant NM_000335.5:c.504C>A (chr3:38620950) in SCN5A was detected in 2 heterozygotes out of 58K WGS Icelanders (MAF= 0,002%). This variant has not been reported in ClinVar previously. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

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