ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) (rs375468610)

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
Athena Diagnostics Inc RCV000517161 SCV000612660 uncertain significance not specified 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV000529628 SCV000638039 uncertain significance Familial hypocalciuric hypercalcemia; Hypocalcemia, autosomal dominant 1 2019-08-25 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 739 of the CASR protein (p.Cys739Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs375468610, ExAC 0.02%). This variant has not been reported in the literature in individuals with CASR-related disease. ClinVar contains an entry for this variant (Variation ID: 446992). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.
Ambry Genetics RCV001014776 SCV001175531 uncertain significance Inborn genetic diseases 2019-04-30 criteria provided, single submitter clinical testing Insufficient evidence

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.