ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1610G>A (p.Arg537Gln) (rs794728373)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181802 SCV000234105 likely pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing While the Arg537Gln mutation in the KCNH2 gene has not been reported to our knowledge, a mutation affecting this same codon, Arg537Trp, has been reported in association with LQTS (Bhuiyan Z et al., 2009). Additionally, mutations in nearby residues (Arg534Cys, Val535Met) have been reported in association with LQTS, further supporting the functional importance of this codon and this region of the protein. Arg537Gln results in a non-conservative amino acid substitution of a positively charged Arginine residue with a neutral, polar Glutamine residue at a position that is conserved across species. In silico analysis predicts Arg537Gln is probably damaging to the protein structure/function. Furthermore, Arg537Gln was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, Arg537Gln in the KCNH2 gene is interpreted as a likely disease-causing mutation

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