Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001912606 | SCV002176806 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2021-10-04 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 175 of the CASR protein (p.Ser175Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. |
| Ambry Genetics | RCV004041636 | SCV005034807 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2023-04-08 | criteria provided, single submitter | clinical testing | The p.S175G variant (also known as c.523A>G), located in coding exon 3 of the CASR gene, results from an A to G substitution at nucleotide position 523. The serine at codon 175 is replaced by glycine, an amino acid with 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. |