ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.298C>G (p.Arg100Gly) (rs121912515)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181948 SCV000234251 pathogenic not provided 2012-04-25 criteria provided, single submitter clinical testing p.Arg100Gly (CGG>GGG): c.298 C>G in exon 2 of the KCNH2 gene (NM_000238.2). The Arg100Gly mutation in the KCNH2 gene has been reported in association with LQTS. Millat G et al. described a 41 year-old patient with a prolonged QT interval and history of torsade de pointes leading to ventricular fibrillation during exercise who harbored the Arg100Gly mutation in the KCNH2 gene as well as the Asp1819Asn mutation in the SCN5A gene. The authors reported both mutations were absent from 200 control chromosomes. Additionally, other mutations at the same codon (Arg100Gln, Arg100Trp) and nearby codons (Tyr99Ser, Lys101Glu, Asp102Ala, Asp102Val) have been reported in association with LQTS, supporting the functional importance of this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Arg100Gly was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating is not a common variant in these populations.Therefore, Arg100Gly in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Ambry Genetics RCV000617723 SCV000738245 uncertain significance Cardiovascular phenotype 2017-11-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
OMIM RCV000015525 SCV000035790 pathogenic Long QT syndrome 2/3, digenic 2006-09-01 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058186 SCV000089706 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16922724). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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