ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1183T>C (p.Cys395Arg) (rs1057517712)

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
GeneDx RCV000413522 SCV000490455 likely pathogenic not provided 2016-09-12 criteria provided, single submitter clinical testing The C395R variant in the CASR gene has been reported previously in association with familial hypocalciuric hypercalcemia (Vigouroux et al., 2000; Forde et al., 2014). In vitro functional studies indicate that this variant results in defective tracking to its functional location in the cell's plasma membrane (White et al., 2009). The C395R variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The C395R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. The C395R variant is a strong candidate for a pathogenic variant; however the possibility it may be a rare benign variant cannot be excluded.

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.