ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1038del (p.Gly348fs)

dbSNP: rs2493700660
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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 RCV003647625 SCV004403995 pathogenic Long QT syndrome 2022-12-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. This sequence change creates a premature translational stop signal (p.Gly348Alafs*6) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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