ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2456C>A (p.Ala819Glu) (rs774109163)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181729 SCV000234032 uncertain significance not specified 2013-08-05 criteria provided, single submitter clinical testing The Ala819Glu variant in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ala819Glu results in a non-conservative amino acid substitution of non-polar Alanine residue with a negatively charged Glutamic acid residue at a position that is not conserved across species. In silico analysis predicts Ala819Glu is benign to the protein structure/function. However, this missense change occurs at a residue that is specific only to an alternative transcript (variant 2) of the KCNH2 gene, where no disease-causing mutations have been reported to date. In addition, as the expression pattern of variant 2 of KCNH2 is unknown, it is not possible at this time to predict if the presence of this variant is clinically significant. The variant is found in LQT panel(s).

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