ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1178C>T (p.Pro393Leu)

gnomAD frequency: 0.00001  dbSNP: rs769814960
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
Invitae RCV001201606 SCV001372683 uncertain significance Long QT syndrome 2023-04-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 933401). This missense change has been observed in individuals with long QT syndrome (PMID: 21956039). This variant is present in population databases (rs769814960, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 393 of the KCNH2 protein (p.Pro393Leu).
Fulgent Genetics, Fulgent Genetics RCV002497688 SCV002812072 uncertain significance Short QT syndrome type 1; Long QT syndrome 2 2021-07-05 criteria provided, single submitter clinical testing

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.