Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001385034 | SCV001584743 | pathogenic | Glycogen storage disease, type VII | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg100*) 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 present in population databases (rs374547385, gnomAD 0.02%). 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: 1072346). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001385034 | SCV004203949 | likely pathogenic | Glycogen storage disease, type VII | 2023-11-15 | criteria provided, single submitter | clinical testing |