Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000493349 | SCV000582845 | uncertain significance | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the COL11A1 gene. The E1277D variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although the E1277D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, it occurs at a position that is conserved across species. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, although the E1277D variant is located in the triple helical region of the COL11A1 gene it does not affect a Glycine residue in a Gly-X-Y motif, where the majority of pathogenic missense variants occur (Stenson et al., 2014). |
| Labcorp Genetics |
RCV000493349 | SCV002973360 | likely benign | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing |