ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.92T>C (p.Ile31Thr) (rs199472833)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181922 SCV000234225 pathogenic not provided 2013-09-20 criteria provided, single submitter clinical testing p.Ile31Thr (ATC>ACC): c.92 T>C in exon 2 of the KCNH2 gene (NM_000238.2)The Ile31Thr mutation in the KCNH2 gene has been reported in one individual tested for LQTS and was not present in 300 control chromosomes in this study (Millat G et al., 2011). Additionally, the Ile31Thr mutation was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Mutations in this residue (Ile31Ser) and in nearby residues (Phe29Ser, Phe29Leu, Ile30Thr, Ala32Thr) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. In summary, Ile31Thr in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058274 SCV000089794 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:19926013;PMID:20851114). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.