Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640978 | SCV000762586 | pathogenic | Hereditary spastic paraplegia 7 | 2022-06-04 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia (HSP) (PMID: 16534102, 23065789). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Phe284Profs*45) in the SPG7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG7 are known to be pathogenic (PMID: 21623769, 22964162). This variant is present in population databases (rs768595656, gnomAD 0.006%). |
Paris Brain Institute, |
RCV000640978 | SCV001451037 | pathogenic | Hereditary spastic paraplegia 7 | criteria provided, single submitter | clinical testing | ||
OMIM | RCV000640978 | SCV000027411 | pathogenic | Hereditary spastic paraplegia 7 | 2006-03-14 | no assertion criteria provided | literature only |