ClinVar Miner

Submissions for variant NM_000220.5(KCNJ1):c.212C>T (p.Thr71Met) (rs373367600)

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
Illumina Clinical Services Laboratory,Illumina RCV000778314 SCV000914497 uncertain significance Bartter syndrome, type 2, antenatal 2017-08-29 criteria provided, single submitter clinical testing The KCNJ1 c.212C>T (p.Thr71Met) missense variant has been reported in at least one study in which it is found in one individual with antenatal Bartter syndrome in a homozygous state (Peters et al. 2003). The p.Thr71Met variant was absent from 100 control chromosomes and is reported at a frequency of 0.000159 in the East Asian population of the Genome Aggregation Database. Expression analysis in Xenopus oocytes and HEK293 cells showed that, unlike the wild type KCNJ1 protein, the p.Thr71Met variant protein was not localized to the membrane, suggesting defective membrane trafficking (Peters et al. 2003). Based on the evidence, the p.Thr71Met variant is classified as a variant of unknown significance but suspicious for pathogenicity for antenatal Bartter syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.