Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206028 | SCV001377315 | pathogenic | Joubert syndrome 21 | 2021-12-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu43*) in the CSPP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CSPP1 are known to be pathogenic (PMID: 24360807, 24360808). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 937081). This variant has not been reported in the literature in individuals affected with CSPP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). |