ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1761del (p.Ala588fs)

dbSNP: rs2136020407
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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 RCV001926361 SCV002204556 pathogenic Glycogen storage disease, type VII 2022-10-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1422945). This variant has not been reported in the literature in individuals affected with PFKM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala588Leufs*29) 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).

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