Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003604508 | SCV004434996 | pathogenic | Camptomelic dysplasia | 2023-02-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SOX9 protein in which other variant(s) (p.Arg394*) have been determined to be pathogenic (PMID: 31389106; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with SOX9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr315*) in the SOX9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 195 amino acid(s) of the SOX9 protein. |