Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000169670 | SCV000221205 | pathogenic | Glycogen storage disease, type VII | 2014-12-15 | criteria provided, single submitter | clinical testing | The 237+1G>A variant in PFKM has been previously identified in one homozygous patient with glycogen storage disease 7 and was found to segregate with disease in an affected homozygous relative (Raben 1993). This variant is located in the 5' splice region and computational tools do suggest an impact to splicing. In summary, this variant meets our criteria for pathogenicity. |
Fulgent Genetics, |
RCV000169670 | SCV000893298 | pathogenic | Glycogen storage disease, type VII | 2022-04-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000169670 | SCV000937925 | pathogenic | Glycogen storage disease, type VII | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 4 of the PFKM gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs202143236, gnomAD 0.2%). Disruption of this splice site has been observed in individuals with phosphofructokinase deficiency (PMID: 8037209, 8444874, 28779239). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 189239). Studies have shown that disruption of this splice site results in skipping of exon 4, but is expected to preserve the integrity of the reading-frame (PMID: 8444874). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000169670 | SCV002018765 | pathogenic | Glycogen storage disease, type VII | 2023-11-28 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000169670 | SCV002050182 | likely pathogenic | Glycogen storage disease, type VII | 2020-12-03 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000169670 | SCV002060337 | pathogenic | Glycogen storage disease, type VII | 2021-11-08 | criteria provided, single submitter | clinical testing | NM_001166686.1(PFKM):c.450+1G>A is a canonical splice variant classified as pathogenic in the context of glycogen storage disease type VII. c.450+1G>A has been observed in cases with relevant disease (PMID: 8037209). Functional assessments of this variant are not available in the literature. c.450+1G>A has been observed in population frequency databases (gnomAD: ASJ 0.24%). In summary, NM_001166686.1(PFKM):c.450+1G>A is a canonical splice variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Gene |
RCV002243838 | SCV002512918 | likely pathogenic | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 28779239, 28627441, 8444874, 25525159, 31589614, 31653659) |
Baylor Genetics | RCV000169670 | SCV004203926 | pathogenic | Glycogen storage disease, type VII | 2024-03-22 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000169670 | SCV000021365 | pathogenic | Glycogen storage disease, type VII | 1997-12-01 | no assertion criteria provided | literature only | |
Yale Center for Mendelian Genomics, |
RCV000662285 | SCV000784613 | likely pathogenic | Rhabdomyolysis | 2017-08-05 | no assertion criteria provided | literature only | |
Natera, |
RCV000169670 | SCV001457676 | pathogenic | Glycogen storage disease, type VII | 2020-09-16 | no assertion criteria provided | clinical testing |