ClinVar Miner

Submissions for variant NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys)

gnomAD frequency: 0.00001  dbSNP: rs398123042
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000054388 SCV001514397 uncertain significance Pulmonary hypertension, primary, 4 2020-08-14 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. Experimental studies have shown that this variant affects KCNK3 protein function (PMID: 23883380, 28889099). This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 23883380, 29743074, Invitae). ClinVar contains an entry for this variant (Variation ID: 60482). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 182 of the KCNK3 protein (p.Glu182Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
OMIM RCV000054388 SCV000082865 pathogenic Pulmonary hypertension, primary, 4 2013-07-25 no assertion criteria provided literature only

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.