Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466675 | SCV000548904 | pathogenic | Spastic paraplegia | 2023-02-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CYP7B1 protein in which other variant(s) (p.Arg486Cys) have been determined to be pathogenic (PMID: 19439320, 21541746, 21623769, 24117163). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 409026). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Lys430Glnfs*42) in the CYP7B1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acid(s) of the CYP7B1 protein. |
Fulgent Genetics, |
RCV002480408 | SCV002787498 | likely pathogenic | Hereditary spastic paraplegia 5A; Congenital bile acid synthesis defect 3 | 2022-01-14 | criteria provided, single submitter | clinical testing |