Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000850370 | SCV000992554 | pathogenic | Stickler syndrome type 1 | 2019-04-24 | criteria provided, single submitter | research | ACMG codes: PVS1,PS2, PM2 |
Invitae | RCV001056922 | SCV001221388 | pathogenic | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro164Leufs*35) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 689620). For these reasons, this variant has been classified as Pathogenic. |