Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813527 | SCV000953889 | uncertain significance | Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 | 2018-10-30 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change impairs the normal function of CASR protein (PMID: 14602739). This variant has been observed to segregate with familial hypocalciuric hypercalcemia in a family (PMID: 14602739). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 212 of the CASR protein (p.Ile212Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. |