Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000623362 | SCV000742796 | pathogenic | Inborn genetic diseases | 2017-07-14 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002512601 | SCV003442519 | likely pathogenic | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | This missense change has been observed in individuals with Desbuquois dysplasia (PMID: 19853239). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CANT1 protein function. ClinVar contains an entry for this variant (Variation ID: 279). This variant is present in population databases (rs267606701, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 300 of the CANT1 protein (p.Arg300Cys). Experimental studies have shown that this missense change affects CANT1 function (PMID: 19853239, 21037275). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg300 amino acid residue in CANT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19853239, 22539336). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. |
| OMIM | RCV000000303 | SCV000020447 | pathogenic | Desbuquois dysplasia 1 | 2009-11-01 | no assertion criteria provided | literature only |