Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507735 | SCV001713466 | likely pathogenic | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | PVS1_strong, PM2 |
Invitae | RCV003588741 | SCV004273056 | pathogenic | Spastic paraplegia | 2023-07-13 | 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: 1163024). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp384Thrfs*10) in the CYP7B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP7B1 are known to be pathogenic (PMID: 9802883, 19363635, 19439420, 21541746, 21567895, 28039895). |