ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.211G>C (p.Gly71Arg) (rs199473420)

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 RCV000181935 SCV000234238 pathogenic not provided 2012-12-05 criteria provided, single submitter clinical testing Gly71Arg has been reported previously in two unrelated patients referred for LQTS testing and itwas absent in 800 reference alleles (Napolitano C et al., 2005; Itoh H et al., 2010). Additionally, the NHLBI ESP Exome Variant Server reports Gly71Arg was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Gly71Arg leads to a non-conservative replacement of a non-polar small Glycine residue with a large polar Arginine residue in the N-terminus of the protein. In addition, other missense mutations affecting neighboring codons (Leu69Pro, His70Arg, His70Asn, Pro72Gln, Pro72Leu) have been reported in association with LQTS, supporting the functional importance of this region of the protein. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058086 SCV000089606 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:16414944). 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.