ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter)

dbSNP: rs1554893228
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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 RCV000548008 SCV000627397 pathogenic Long QT syndrome 2017-04-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 278 (p.Tyr278*) of the KCNQ1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 19862833).

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