Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000485301 | SCV000571858 | likely pathogenic | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | The R39X likely pathogenic variant in the PFKM gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R39X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R39X variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
| Invitae | RCV001274001 | SCV002229517 | pathogenic | Glycogen storage disease, type VII | 2022-04-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg39*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PFKM-related conditions. ClinVar contains an entry for this variant (Variation ID: 422391). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV001274001 | SCV004203962 | likely pathogenic | Glycogen storage disease, type VII | 2022-07-09 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001274001 | SCV001457675 | likely pathogenic | Glycogen storage disease, type VII | 2020-09-16 | no assertion criteria provided | clinical testing |