ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)

dbSNP: rs2135886253
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001879110 SCV002140226 pathogenic Glycogen storage disease, type VII 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg129Profs*10) 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). 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: 1371672). For these reasons, this variant has been classified as Pathogenic.

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