ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2744GCA[3] (p.Ser916_Lys917insSer)

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 RCV003782406 SCV004578054 uncertain significance Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-08-09 criteria provided, single submitter clinical testing This variant, c.2747_2749dup, results in the insertion of 1 amino acid(s) of the CASR protein (p.Ser916dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CASR-related conditions. 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 RCV004366576 SCV005035408 uncertain significance Nephrolithiasis/nephrocalcinosis 2024-02-29 criteria provided, single submitter clinical testing The c.2747_2749dupGCA variant (also known as p.S916dup), located in coding exon 6 of the CASR gene, results from an in-frame duplication of GCA at nucleotide positions 2747 to 2749. This results in the in-frame duplication of an extra serine residue at codon 916. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). In addition, the evidence for the gene-disease relationship is limited for pancreatitis and cancer predisposition; therefore, the clinical significance of this variant for CASR-related pancreatitis and cancer predisposition is unclear. Based on the available evidence, 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.