ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1562A>G (p.Asn521Ser) (rs121912513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181876 SCV000234179 pathogenic not provided 2013-10-30 criteria provided, single submitter clinical testing p.Asn861Ser (AAC>AGC): c.2582 A>G in exon 10 of the KCNH2 gene (NM_000238.2)While the Asn861Ser mutation in the KCNH2 gene has not been reported to our knowledge, other mutations affecting this same residue, Asn816Ile and Asn861His, has been reported in association with LQTS. Additionally, mutations in nearby residues (Ile858Thr, Asp864Gly) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. Although Asn861Ser results in a conservative amino acid substitution of one polar residue for another, the Asn 861 residue is conserved across species. In silico analysis predicts Asn861Ser is probably damaging to the protein structure/function. Furthermore, Asn861Ser 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, Asn861Ser in the KCNH2 gene is interpreted as a likely disease-causing mutation. The variant is found in LQT panel(s).

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