Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047427 | SCV001211388 | pathogenic | Glycogen storage disease, type VII | 2023-06-03 | 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: 844552). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type VII (PMID: 24011984). This variant is present in population databases (rs138893744, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg98*) 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 | RCV001047427 | SCV004203927 | pathogenic | Glycogen storage disease, type VII | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001047427 | SCV001457678 | pathogenic | Glycogen storage disease, type VII | 2020-09-16 | no assertion criteria provided | clinical testing |