ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2455G>T (p.Ala819Ser) (rs779355544)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181860 SCV000234163 uncertain significance not provided 2012-06-22 criteria provided, single submitter clinical testing p.Ala819Ser (GCG>TCG): c.2455 G>T in exon 9 of the KCNH2 gene (NM_172056.1). The Ala819Ser variant in the KCNH2 gene has not been reported as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Ala819Ser results in a non-conservative amino acid substitution of a non-polar Alanine with a neutral, polar Serine. The NHLBI ESP Exome Variant Server reports Ala819Ser was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, this missense change occurs at a residue that is specific only to an alternative transcript (variant 2) of the KCNH2 gene, where no disease-causing mutations have been reported to date. In addition, as the expression pattern of variant 2 of KCNH2 is unknown, it is not possible at this time to predict if the presence of this variant is clinically significant. In summary, the clinical significance of Ala819Ser in the KCNH2 gene is currently unknown. The variant is found in LQT panel(s).

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