Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002007231 | SCV002232929 | pathogenic | not provided | 2023-09-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg2947*) in the SPEG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPEG are known to be pathogenic (PMID: 19118250, 25087613). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1451459). This variant has not been reported in the literature in individuals affected with SPEG-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Center for Genomic Medicine, |
RCV003989738 | SCV004807617 | pathogenic | Myopathy, centronuclear, 5 | 2024-03-29 | criteria provided, single submitter | clinical testing |