Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000818767 | SCV000959399 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2022-10-19 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 661368). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu889Serfs*45) in the CASR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 190 amino acid(s) of the CASR protein. |
| Ambry Genetics | RCV004028969 | SCV002744838 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2023-03-13 | criteria provided, single submitter | clinical testing | The c.2665_2680del16 variant, located in coding exon 6 of the CASR gene, results from a deletion of 16 nucleotides at nucleotide positions 2665 to 2680, causing a translational frameshift with a predicted alternate stop codon (p.L889Sfs*45). This alteration occurs at the 3' terminus of theCASR gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 190 amino acids of the protein. The exact functional effect of this alteration is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |