Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760438 | SCV000890321 | pathogenic | not provided | 2021-06-01 | 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 significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 22499343, 21668896, 24127948, 27535533) |
Invitae | RCV000760438 | SCV003523437 | pathogenic | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1362*) 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 (rs755987732, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with COL11A1-related conditions (PMID: 21668896). ClinVar contains an entry for this variant (Variation ID: 620141). For these reasons, this variant has been classified as Pathogenic. |