ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)

gnomAD frequency: 0.00001  dbSNP: rs41291965
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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 RCV001906465 SCV002173954 pathogenic Glycogen storage disease, type VII 2022-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with PFKM-related conditions. This variant is present in population databases (rs41291965, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg432*) 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 RCV001906465 SCV004203937 likely pathogenic Glycogen storage disease, type VII 2023-11-18 criteria provided, single submitter clinical testing

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