ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.758C>G (p.Ala253Gly) (rs794728479)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182019 SCV000234322 uncertain significance not provided 2014-10-27 criteria provided, single submitter clinical testing p.Ala253Gly (GCG>GGG): c.758 C>G in exon 4 of the KCNH2 gene (NM_000238.2). The A253G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Data from control individuals were not available to assess whether A253G may be a common benign variant in the general population. The A253G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. 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. Nevertheless, missense mutations in nearby residues (R242G, P251S, R252G, D259N) have been reported in association with LQTS, supporting the functional importance of this region of the protein. 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 LQT panel(s).

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