Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519795 | SCV000619846 | uncertain significance | not provided | 2017-07-31 | criteria provided, single submitter | clinical testing | The I822T variant in the CASR gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge.This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I822T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. We consider it to be a variant of uncertain significance. |
Center for Bone Health, |
RCV001255710 | SCV001429692 | pathogenic | Autosomal dominant hypocalcemia 1 | 2020-08-03 | no assertion criteria provided | clinical testing |