ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)

dbSNP: rs866904446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939132 SCV002206892 pathogenic Glycogen storage disease, type VII 2023-04-14 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg246*) 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 has not been reported in the literature in individuals affected with PFKM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1429839). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001939132 SCV004203934 likely pathogenic Glycogen storage disease, type VII 2023-08-23 criteria provided, single submitter clinical testing

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