Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001939132 | SCV002206892 | pathogenic | Glycogen storage disease, type VII | 2023-04-14 | 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: 1429839). This variant has not been reported in the literature in individuals affected with PFKM-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg246*) in the PFKM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PFKM are known to be pathogenic (PMID: 7825568, 8037209). |
Baylor Genetics | RCV001939132 | SCV004203934 | likely pathogenic | Glycogen storage disease, type VII | 2023-08-23 | criteria provided, single submitter | clinical testing |