Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213809 | SCV001385459 | pathogenic | Hereditary spastic paraplegia 4 | 2019-08-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). This variant has been observed in an individual affected with hereditary spastic paraplegia (PMID: 27334366). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys310*) in the SPAST gene. It is expected to result in an absent or disrupted protein product. |
Athena Diagnostics Inc | RCV001288799 | SCV001476160 | pathogenic | not provided | 2020-04-10 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |