ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1882G>C (p.Gly628Arg) (rs121912507)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182035 SCV000234338 pathogenic not provided 2012-01-12 criteria provided, single submitter clinical testing The Gly628Arg mutation in the KCNQ1 gene has not been reported previously, three different mutations at the same position (Gly628Ala, Gly628Ser, Gly628Val) have been reported multiple times in association with LQTS. In addition, mutations in nearby codons (Phe627Leu, Phe627Ile, Asn629Asp) have also been reported in association with LQTS, further supporting the functional importance of this region of the protein. Gly628Arg results in a non-conservative amino acid substitution of a non-polar Glycine with a positively charged Arginine at a residue that is conserved across species. The NHLBI ESP Exome Variant Server reports Gly269Arg was not observed in approximately 5,500 individuals from European and African American backgrounds, indicating it is not a common benign polymorphism in these populations. Therefore, the presence of the Gly628Arg mutation in the KCNH2 gene is consistent with a diagnosis of an autosomal dominant form of LQTS. The variant is found in LQT panel(s).

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