ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1837A>T (p.Thr613Ser) (rs794728485)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182031 SCV000234334 pathogenic not provided 2014-09-12 criteria provided, single submitter clinical testing p.Thr613Ser (ACG>TCG): c.1837 A>T in exon 7 of the KCNH2 gene (NM_000238.2). While the T613S mutation in the KCNH2 gene has not been reported to our knowledge, mutations affecting this same residue, (T613K, T613M), have been reported in association with LQTS (Cuneo et al., 2013; Jongbloed et al., 1999). Additionally, mutations in nearby residues (Y611H, V612M, A614V, L615V, Y616C) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. T613S results in a conservative amino acid substitution of Threonine at a position that is conserved across species. In silico analysis predicts T613S is probably damaging to to the protein structure/function. Furthermore, T613S 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, T613S in the KCNH2 gene is interpreted as a likely disease-causing mutation. The variant is found in LQT panel(s).

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