Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001204429 | SCV001375635 | pathogenic | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2019-06-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to segregate with hypocalciuric hypercalcemia in families (PMID: 17698911). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 886 of the CASR protein (p.Arg886Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
Center for Genomic Medicine, |
RCV002268449 | SCV002550434 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing |