Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497961 | SCV000590451 | pathogenic | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | Has been identified in trans with the c.336_340delinsG variant, in a 2 year-old with clinical features of otospondylomegaepiphyseal dysplasia (OSMED) (Selvam et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 32341816) |
Invitae | RCV000497961 | SCV004375901 | pathogenic | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 432697). This premature translational stop signal has been observed in individual(s) with otospondylomegaepiphyseal dysplasia (PMID: 32341816). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg64*) in the COL11A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL11A2 are known to be pathogenic (PMID: 10677296, 21204229). |