Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857353 | SCV002123640 | pathogenic | not provided | 2021-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with fibrochondrogenesis (PMID: 21035103). ClinVar contains an entry for this variant (Variation ID: 29649). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1315*) 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: 21035103, 23922384). |
OMIM | RCV001804156 | SCV000043786 | pathogenic | Fibrochondrogenesis | 2010-11-12 | no assertion criteria provided | literature only |