Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001966296 | SCV002248015 | uncertain significance | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with COL11A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1467285). 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 not expected to disrupt COL11A1 protein function. 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. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 148 of the COL11A1 protein (p.Pro148Ala). This variant is not present in population databases (gnomAD no frequency). |
| Gene |
RCV001966296 | SCV005441143 | uncertain significance | not provided | 2024-06-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; PMID: 25240749); Identified in a patient with achromatopsia in a cohort of patients with inherited retinal detachment or optic neuropathy; this patient also harbored additional variants in the COL18A1 gene (PMID: 37734845); This variant is associated with the following publications: (PMID: 25240749, 37734845) |