ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2329A>C (p.Ile777Leu)

dbSNP: rs2074936383
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001205834 SCV001377111 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with leucine at codon 777 of the CASR protein (p.Ile777Leu). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and leucine. This variant has been observed in an individual with clinical features of familial hypocalciuric hypercalcemia (PMID: 27666534). This variant has been reported to have conflicting or insufficient data to determine the effect on CASR protein function (PMID: 27666534). 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. This variant is not present in population databases (ExAC no frequency).

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.