Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206556 | SCV000260062 | pathogenic | Spastic paraplegia | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg112*) 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 (rs200737038, gnomAD 0.2%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 19439420, 24117163, 24641183, 29980238). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 219912). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV000210595 | SCV000262949 | pathogenic | Inborn genetic diseases | 2012-12-04 | criteria provided, single submitter | clinical testing | Please see table 3 in supplementary results of the main report. This variant has not been detected in conjunction with a pathogenic mutation to date. This amino acid position is highly conserved in available vertebrate species. |
Eurofins Ntd Llc |
RCV000729706 | SCV000857392 | pathogenic | not provided | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Paris Brain Institute, |
RCV000206556 | SCV001451311 | uncertain significance | Spastic paraplegia | criteria provided, single submitter | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001847930 | SCV002104555 | pathogenic | Hereditary spastic paraplegia | 2019-09-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001312060 | SCV001502492 | pathogenic | Congenital bile acid synthesis defect 3 | 2021-03-09 | no assertion criteria provided | literature only |