Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819914 | SCV000960601 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2023-05-02 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 662304). This variant has not been reported in the literature in individuals affected with CASR-related conditions. This variant is present in population databases (rs758232331, gnomAD 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 33 of the CASR protein (p.Ile33Ser). |
Fulgent Genetics, |
RCV002487826 | SCV002785750 | uncertain significance | Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 | 2022-01-10 | criteria provided, single submitter | clinical testing |