ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.44T>A (p.Leu15Gln) (rs794728418)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181954 SCV000234257 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNH2 gene. The L15Q variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The L15Q 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. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Nevertheless, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.

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