Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537669 | SCV000638005 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-10-30 | 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 364 of the CASR protein (p.Ala364Glu). This variant is present in population databases (rs200771541, gnomAD 0.004%). 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: 463891). 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 tolerated. 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. |
Fulgent Genetics, |
RCV000764462 | SCV000895527 | uncertain significance | Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 | 2022-03-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004023926 | SCV001178299 | uncertain significance | Nephrolithiasis/nephrocalcinosis | 2021-12-07 | criteria provided, single submitter | clinical testing | The c.1091C>A (p.A364E) alteration is located in exon 4 (coding exon 3) of the CASR gene. This alteration results from a C to A substitution at nucleotide position 1091, causing the alanine (A) at amino acid position 364 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |