Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002000359 | SCV002257761 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-09-03 | criteria provided, single submitter | clinical testing | 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. This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 953 of the CASR protein (p.Gln953Glu). This variant is present in population databases (rs542434118, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CASR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1480725). 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. |
| Ambry Genetics | RCV004042426 | SCV003858286 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2022-12-26 | criteria provided, single submitter | clinical testing | The p.Q953E variant (also known as c.2857C>G), located in coding exon 6 of the CASR gene, results from a C to G substitution at nucleotide position 2857. The glutamine at codon 953 is replaced by glutamic acid, an amino acid with highly similar 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. |