Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800899 | SCV000940642 | pathogenic | Spastic paraplegia | 2023-09-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg388*) 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). This variant is present in population databases (rs72554620, gnomAD 0.005%). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia and neonatal liver failure (PMID: 9802883, 18252231, 19812052). ClinVar contains an entry for this variant (Variation ID: 6100). For these reasons, this variant has been classified as Pathogenic. |
Centre for Mendelian Genomics, |
RCV000006474 | SCV001367373 | pathogenic | Hereditary spastic paraplegia 5A | 2020-02-27 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS4_MOD,PM2. |
Paris Brain Institute, |
RCV000006474 | SCV001451298 | pathogenic | Hereditary spastic paraplegia 5A | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000006473 | SCV000026656 | pathogenic | Congenital bile acid synthesis defect 3 | 2008-02-01 | no assertion criteria provided | literature only | |
OMIM | RCV000006474 | SCV000026657 | pathogenic | Hereditary spastic paraplegia 5A | 2008-02-01 | no assertion criteria provided | literature only |