ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.884del (p.Lys295fs) (rs397508083)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045977 SCV000073990 pathogenic Long QT syndrome 2020-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys422Serfs*10) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product. This variant has been identified in individuals with long QT syndrome (PMID: 19716085, 19841300, 23098067, 14998624, 22456477). ClinVar contains an entry for this variant (Variation ID: 52973) Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000627414 SCV000748410 likely pathogenic not provided 2018-11-12 criteria provided, single submitter clinical testing The c.1265delA likely pathogenic variant in the KCNQ1 gene has been reported in association with LQTS (Kapplinger et al., 2009; Stattin et al., 2012); however, additional clinical details were not provided. The c.1265delA variant causes a shift in reading frame starting at codon lysine 422, changing it to a serine, and creating a premature stop codon at position 10 of the new reading frame, denoted p.Lys422SerfsX10. This likely pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNQ1 gene have been reported in Human Gene Mutation Database in association with LQTS and JLNS (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.1265delA variant has not been observed in large population cohorts (Lek et al., 2016). In summary, c.1265delA in the KCNQ1 gene is interpreted as a likely pathogenic variant.
Color Health, Inc RCV001184331 SCV001350290 pathogenic Arrhythmia 2018-11-08 criteria provided, single submitter clinical testing
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV001248795 SCV001422307 pathogenic Long QT syndrome 1 2019-12-17 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000627414 SCV000809453 pathogenic not provided 2018-09-16 no assertion criteria provided research

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