Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034227 | SCV001420240 | pathogenic | Hereditary spastic paraplegia 11 | 2019-11-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). This variant has been observed in individual(s) with hereditary spastic paraplegia (PMID: 18663179). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41326). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His1902Ilefs*49) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV000034227 | SCV000058166 | not provided | Hereditary spastic paraplegia 11 | no assertion provided | literature only |