Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035572 | SCV001198905 | pathogenic | Hereditary spastic paraplegia 4 | 2022-02-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 834811). This variant is not present in population databases (gnomAD no frequency). This variant is also known as c.977-978insA. This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 20932283). This sequence change creates a premature translational stop signal (p.Asn326Lysfs*6) in the SPAST gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPAST are known to be pathogenic (PMID: 20932283). |