Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994907 | SCV001148718 | likely pathogenic | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000994907 | SCV001791819 | pathogenic | not provided | 2020-01-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Frameshift 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 |
Invitae | RCV000994907 | SCV003311152 | pathogenic | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 806875). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly174Valfs*25) in the COL2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL2A1 are known to be pathogenic (PMID: 20179744). |