ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1694C>T (p.Ala565Val) (rs794728482)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182027 SCV000234330 pathogenic not provided 2011-10-03 criteria provided, single submitter clinical testing The Ala565Val variant in the KCNH2 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Ala565Val results in a conservative substitution of one non-polar amino acid for another at a residue that is highly conserved across species. A non-conservative amino acid substitution at the same codon, Ala565Thr, has been reported in association with LQTS. Mutations in nearby codons (Trp563Cys, Leu564Pro, Cys566Ser, Cys566Phe) have been reported in association with LQTS, supporting the functional importance of this region of the protein. In silico analysis predicts Ala565Val is probably damaging to the protein structure/function. In addition, the Ala565Val variant was not detected in up to 200 alleles from control individuals of Caucasian ancestry tested at GeneDx, indicating it is not a common benign variant in this population. The variant is found in LQT panel(s).

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