Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001342800 | SCV001536747 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-04-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 179 of the CASR protein (p.Gln179Arg). ClinVar contains an entry for this variant (Variation ID: 1039346). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. |
| Ambry Genetics | RCV004036008 | SCV002645126 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2022-06-11 | criteria provided, single submitter | clinical testing | The p.Q179R variant (also known as c.536A>G), located in coding exon 3 of the CASR gene, results from an A to G substitution at nucleotide position 536. The glutamine at codon 179 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |