Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000196592 | SCV000253882 | pathogenic | Hereditary spastic paraplegia 7 | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg470*) 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 (rs748555510, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with SPG7-related conditions (PMID: 29482223). ClinVar contains an entry for this variant (Variation ID: 216088). For these reasons, this variant has been classified as Pathogenic. |
MGZ Medical Genetics Center | RCV000196592 | SCV002581900 | likely pathogenic | Hereditary spastic paraplegia 7 | 2021-07-06 | criteria provided, single submitter | clinical testing |