ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)

dbSNP: rs1589884185
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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 RCV000821537 SCV000962296 pathogenic Long QT syndrome 2018-10-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). This variant has been observed in an individual affected with clinical features of long QT syndrome (Invitae). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Trp17*) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product.

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