Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001049518 | SCV001213570 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2020-03-05 | 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: "Probably Damaging"; 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 alanine with valine at codon 196 of the CASR protein (p.Ala196Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
| Ambry Genetics | RCV004031545 | SCV002651804 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2022-06-13 | criteria provided, single submitter | clinical testing | The p.A196V variant (also known as c.587C>T), located in coding exon 3 of the CASR gene, results from a C to T substitution at nucleotide position 587. The alanine at codon 196 is replaced by valine, 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. |