Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519601 | SCV000618681 | uncertain significance | not provided | 2017-06-30 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the COL11A1 gene. The T58M 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). The T58M 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved across species and where methionine is present as the wild type in at least one species. |
Labcorp Genetics |
RCV000519601 | SCV002217941 | benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000519601 | SCV004235363 | uncertain significance | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004737597 | SCV005349587 | uncertain significance | COL11A1-related disorder | 2024-09-26 | no assertion criteria provided | clinical testing | The COL11A1 c.173C>T variant is predicted to result in the amino acid substitution p.Thr58Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |