Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000808599 | SCV000948712 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-06-05 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Gly553 amino acid residue in CASR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10885494, 19389809). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. 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. ClinVar contains an entry for this variant (Variation ID: 652928). This missense change has been observed in individual(s) with hypercalcinemia (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 553 of the CASR protein (p.Gly553Val). |
| Athena Diagnostics Inc | RCV000991737 | SCV001143430 | uncertain significance | not provided | 2019-05-30 | criteria provided, single submitter | clinical testing |