ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)

dbSNP: rs397508110
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182294 SCV000234597 pathogenic not provided 2024-04-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Identified in the heterozygous state in patients with LQTS referred for genetic testing at GeneDx and in published literature (PMID: 19716085); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19716085, 36140355, 33431609, 10077519)
Labcorp Genetics (formerly Invitae), Labcorp RCV001061673 SCV001226423 pathogenic Long QT syndrome 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu151Glyfs*133) 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). This premature translational stop signal has been observed in individual(s) with autosomal recessive Jervell and Lange-Nielsen syndrome (PMID: 10077519). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 53045). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003281 SCV000023439 pathogenic Jervell and Lange-Nielsen syndrome 1 1999-03-16 no assertion criteria provided literature only

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