ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3079G>A (p.Val1027Ile)

gnomAD frequency: 0.00001  dbSNP: rs776184769
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 RCV000816419 SCV000956927 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028888 SCV002608703 uncertain significance Nephrolithiasis/nephrocalcinosis 2021-06-19 criteria provided, single submitter clinical testing The p.V1027I variant (also known as c.3079G>A), located in coding exon 6 of the CASR gene, results from a G to A substitution at nucleotide position 3079. The valine at codon 1027 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.