Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658261 | SCV000780032 | likely pathogenic | not provided | 2020-04-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000658261 | SCV002995066 | pathogenic | not provided | 2024-01-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn398*) in the COL11A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A1 are known to be pathogenic (PMID: 20513134, 21035103, 23922384, 25240749, 32427345, 32756486). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 546394). For these reasons, this variant has been classified as Pathogenic. |