Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001229819 | SCV001402276 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2019-08-13 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with CASR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 205 of the CASR protein (p.Arg205Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. |
| Ambry Genetics | RCV002356986 | SCV002657036 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2022-01-28 | criteria provided, single submitter | clinical testing | The p.R205G variant (also known as c.613C>G), located in coding exon 3 of the CASR gene, results from a C to G substitution at nucleotide position 613. The arginine at codon 205 is replaced by glycine, an amino acid with dissimilar 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. |