ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1514+1G>A

dbSNP: rs397508093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617855 SCV000738251 pathogenic Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing The c.1514+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 11 of the KCNQ1 gene, and is located in the C-terminal domain. This alteration has been reported in a long QT syndrome (LQTS) cohort (Napolitano C et al. JAMA, 2005 Dec;294:2975-80). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577184 SCV000678867 not provided Long QT syndrome 1 no assertion provided literature only

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