ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.73C>T (p.Arg25Ter) (rs201633414)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413560 SCV000490452 pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing The R25X nonsense variant in the CASR gene has been reported previously in patients with primary hyperparathyroidism and familial hypocacliuric hypercalcemia (Frank-Raue et al, 2011; Ward et al., 2006). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, the R25X variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry by the NHLBI Exome Sequencing Project. In summary, we interpret R25X as a pathogenic variant.
Invitae RCV000457695 SCV000550973 pathogenic Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2020-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg25*) in the CASR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201633414, ExAC 0.01%). This variant has been observed in a family affected with familial hypocalciuric hypercalcaemia (FHH) (PMID: 16649980), and an individual affected with primary hyperparathyroidism (HPT) (PMID: 21521328). ClinVar contains an entry for this variant (Variation ID: 372315). Loss-of-function variants in CASR are known to be pathogenic (PMID: 22422767). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000413560 SCV000612679 likely pathogenic not provided 2016-12-14 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.