ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs)

dbSNP: rs1253568733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003648338 SCV004429857 pathogenic Long QT syndrome 2024-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val334Leufs*19) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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