ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter)

dbSNP: rs765609579
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 RCV001389307 SCV001590623 pathogenic not provided 2023-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg977*) in the SLC12A3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 54 amino acid(s) of the SLC12A3 protein. This variant is present in population databases (rs765609579, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Gitelman syndrome (PMID: 8528245, 9734597). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is also known as 2927C>T (Arg968Stop). ClinVar contains an entry for this variant (Variation ID: 1075649). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the SLC12A3 protein in which other variant(s) (p.Arg1018*) have been determined to be pathogenic (PMID: 12911530, 26770037, 29942493). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001826181 SCV002089380 pathogenic Familial hypokalemia-hypomagnesemia 2021-02-16 no assertion criteria provided 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.