ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.395_456del (p.Val132fs) (rs1554428178)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484926 SCV000565895 pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing The c.395_456del62 variant (reported as Del 395-456 and V131fs/185) in the KCNH2 gene has beenreported in association LQTS, and was not present in at least 1,500 reference alleles (Kapa et al., 2009,Choi et al., 2004; Tester et al., 2005). This variant is expected to result in either an abnormal,truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the KCNH2 gene have been reported in HGMD in association with LQTS(Stenson P et al., 2014). In summary, c.395_456del62 in the KCNH2 gene is interpreted as pathogenic.

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.