ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) (rs959449103)

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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 RCV000620671 SCV000738135 uncertain significance Cardiovascular phenotype 2017-08-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Insufficient evidence
GeneDx RCV000479776 SCV000565092 likely pathogenic not provided 2014-12-08 criteria provided, single submitter clinical testing A novel E11K variant that is likely pathogenic was identified in the KCNQ1 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The E11K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is class conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense variant in nearby residues (A2V, P7S) have been 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. Data from control individuals were not available to assess whether E11K may be a common benign variant in the general population. Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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