ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2073_2086del (p.Pro694fs) (rs1554424063)

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 RCV000599480 SCV000709880 pathogenic not provided 2018-12-21 criteria provided, single submitter clinical testing The c.3093_3106del14 pathogenic variant in the KCNH2 gene has been reported in association with LQTS (Napolitano et al., 2005; Kapplinger et al., 2009). This variant causes a shift in reading frame starting at codon proline 1034, changing it to a glycine, and creating a premature stop codon at position 80 of the new reading frame, denoted p.Pro1034GlyfsX80. This pathogenic variant is expected to result in an abnormal, truncated protein product as the last 126 amino acids are replaced with 79 incorrect amino acids. Other frameshift variants in the KCNH2 gene have been reported in Human Gene Mutation Database in association with LQTS (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.3093_3106del14 variant has not been observed in large population cohorts (Lek et al., 2016). In summary, c.3093_3106del14 in the KCNH2 gene is interpreted as a pathogenic variant.

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.