ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.533G>T (p.Trp178Leu) (rs120074186)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182131 SCV000234434 pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing The W305L pathogenic variant in the KCNQ1 gene has been reported previously in several individuals from a single family with long QT syndrome (Zhou et al., 2015). This variant has been reported in one patient with LQTS and a congenital heart defect (Ebrahim et al., 2017). The W305L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant results in a semi-conservative amino acid substitution at a position that is conserved across species. Functional studies show that W305L affects potassium ion channel function, with reduced peak current density in transfected COS7 cells (Zhou et al., 2015). Missense variants at the same residue (W305S) and in nearby residues (A302V, G306R, V310I) have been reported in the Human Gene Mutation Database in association with long QT syndrome (Stenson et al., 2014), supporting the functional importance of this residue and this region of the protein.
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678950 SCV000805164 pathogenic Long QT syndrome 1 2018-04-20 criteria provided, single submitter clinical testing

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