Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000543101 | SCV000638069 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 103 of the CASR protein (p.Thr103Ile). This variant is present in population databases (rs199734455, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This missense change has been observed to be homozygous or hemizygous in an individual who did not have the expected clinical features for that genetic result (Invitae). ClinVar contains an entry for this variant (Variation ID: 463947). 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. |
| Athena Diagnostics Inc | RCV000991748 | SCV001143441 | uncertain significance | not provided | 2019-07-24 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002323963 | SCV002608760 | uncertain significance | Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis | 2022-05-17 | criteria provided, single submitter | clinical testing | The p.T103I variant (also known as c.308C>T), located in coding exon 2 of the CASR gene, results from a C to T substitution at nucleotide position 308. The threonine at codon 103 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002491012 | SCV002781850 | uncertain significance | Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 | 2022-03-04 | criteria provided, single submitter | clinical testing |