Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000545591 | SCV000638085 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 282 of the CASR protein (p.Glu282Gly). This variant is present in population databases (rs751540983, gnomAD 0.003%). 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: 463958). 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 disruptive. 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. |
| Ai |
RCV002223862 | SCV002503401 | uncertain significance | not provided | 2020-07-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002448683 | SCV002680768 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2020-05-12 | criteria provided, single submitter | clinical testing | The p.E282G variant (also known as c.845A>G), located in coding exon 3 of the CASR gene, results from an A to G substitution at nucleotide position 845. The glutamic acid at codon 282 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |