ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.214C>T (p.Pro72Ser) (rs794728411)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181936 SCV000234239 pathogenic not provided 2014-04-12 criteria provided, single submitter clinical testing p.Pro72Ser (CCG>TCG): c.214 C>T in exon 2 of the KCNH2 gene (NM_000238.2)The P72S mutation in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. However, different missense mutations at the same residue (P72Q, P72R, P72L) have been reported in association with LQTS (Splawski et al., 2000; Crotti et al., 2008; Kapplinger et al., 2009). Additionally, mutations in nearby residues (G71R, G71E, T74R, T74M, T74P) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. The P72S variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. This substitution occurs at a position that is mostly conserved across species. Furthermore, the P72S mutation was not observed inapproximately 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, P72S in the KCNH2 gene is interpreted as a likely disease-causing mutation. The variant is found in LQT panel(s).

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