Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000518164 | SCV000612664 | uncertain significance | not specified | 2016-10-18 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002527462 | SCV003321904 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 850 of the CASR protein (p.Ala850Glu). This variant is present in population databases (rs373819680, gnomAD 0.007%). 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: 446995). 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. |
| Ambry Genetics | RCV004023499 | SCV003858291 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2023-02-18 | criteria provided, single submitter | clinical testing | The p.A850E variant (also known as c.2549C>A), located in coding exon 6 of the CASR gene, results from a C to A substitution at nucleotide position 2549. The alanine at codon 850 is replaced by glutamic acid, an amino acid with dissimilar 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. |