ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1699G>A (p.Ala567Thr) (rs752686806)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181886 SCV000234189 uncertain significance not provided 2014-05-14 criteria provided, single submitter clinical testing p.Ala907Thr (GCC>ACC): c.2719 G>A in exon 12 of the KCNH2 gene (NM_000238.2). A variant of unknown significance has been identified in the KCNH2 gene. The A907T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The A907T variant was not observed in approximately 3000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these population. The A907T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Missense mutations in nearby residues (S906L, A913V) have been reported in association with LQTS, supporting the functional importance of this region of the protein. However, this substitution occurs at a position that is not conserved across species and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).

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