Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003499259 | SCV004274484 | pathogenic | Mast syndrome | 2023-01-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SPG21-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu46Hisfs*43) in the SPG21 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG21 are known to be pathogenic (PMID: 14564668). |