ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633476 SCV003515120 pathogenic Glycogen storage disease, type VII 2023-04-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PFKM-related conditions. This sequence change creates a premature translational stop signal (p.Arg603*) 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). ClinVar contains an entry for this variant (Variation ID: 2196187). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002633476 SCV004203950 likely pathogenic Glycogen storage disease, type VII 2023-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002633476 SCV005634642 likely pathogenic Glycogen storage disease, type VII 2024-01-03 criteria provided, single submitter clinical testing

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