Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001881463 | SCV002151530 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2021-09-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 804 of the CASR protein (p.Ala804Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (rs777219967, ExAC 0.003%). |
| Ambry Genetics | RCV004041390 | SCV002736149 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2021-08-15 | criteria provided, single submitter | clinical testing | The p.A804S variant (also known as c.2410G>T), located in coding exon 6 of the CASR gene, results from a G to T substitution at nucleotide position 2410. The alanine at codon 804 is replaced by serine, 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. |