ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.346G>A (p.Ala116Thr)

dbSNP: rs104893691
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
Genetic Services Laboratory, University of Chicago RCV001818146 SCV002069286 likely pathogenic not provided 2018-11-08 criteria provided, single submitter clinical testing DNA sequence analysis of the CASR gene demonstrated a sequence change, c.346G>A, in exon 3 that results in an amino acid change, p.Ala116Thr. The p.Ala116Thr change affects a highly conserved amino acid residue located in a domain of the CASR protein that is known to be functional. The p.Ala116Thr substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This particular sequence change has been previously described as a de novo variant in one family with autosomal dominant hypocalcemia (PMID: 8733126). Affected members had low serum parathyroid hormone (PTH) and low serum calcium concentrations and presented with muscle cramps. Despite low serum calcium concentrations, affected members had significant hypercalciuria that was suggestive of the p.Ala116Thr being an activating mutation (PMID: 8733126).
OMIM RCV000008822 SCV000029032 pathogenic Autosomal dominant hypocalcemia 1 1996-05-01 no assertion criteria provided literature only

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.