ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.602C>T (p.Thr201Met) (rs794728357)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181763 SCV000234066 uncertain significance not provided 2013-04-23 criteria provided, single submitter clinical testing p.Thr201Met (ACG>ATG): c.602 C>T in exon 4 of the KCNH2 gene (NM_000238.2). The Thr201Met variant in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Thr201Met results in a non-conservative amino acid substitution of a polar Threonine residue with a non-polar Methionine residue at a position that is not conserved across species. In silico analysis predicts Thr201Met is benign to the protein structure/function. However, the Thr201Met variant was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.With the clinical and molecular information available at this time, we cannot definitively determine if Thr201Met is a disease-causing mutation or a rare benign variant. The variant is found in LQT panel(s).

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