ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.668G>T (p.Gly223Val) (rs794728524)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182165 SCV000234468 likely pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing The G350V variant was initially reported in an individual referred for LQTS testing, though patient-specific clinical data were not included (Lieve et al., 2013). G350V was subsequently reported in a German family in which the the variant segregated with LQTS in a mother and her newborn child (Flock et al., 2015). In addition, the G350V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although G350V is a conservative amino acid substitution, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Moreover, missense variants in nearby residues (G345E, S349W, G345R) have been classified as likely pathogenic/pathogenic at GeneDx as well as reported in the Human Gene Mutation Database in association with LQTS (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic variant, however, the possibility that it is a benign variant cannot be excluded.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845364 SCV000987419 likely pathogenic Long QT syndrome criteria provided, single submitter clinical testing

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