ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter)

dbSNP: rs750349088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256077 SCV000321796 likely pathogenic not provided 2022-06-30 criteria provided, single submitter clinical testing Identified in one patient with LQTS and congenital hearing loss who also harbors a variant of uncertain significance in the KCNQ1 gene (Faridi et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 42 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 30461122)
Roden Lab, Vanderbilt University Medical Center RCV004777644 SCV005393572 not provided Long QT syndrome 5 no assertion provided in vitro

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