ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)

gnomAD frequency: 0.00001  dbSNP: rs138893744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047427 SCV001211388 pathogenic Glycogen storage disease, type VII 2023-06-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs138893744, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Arg98*) 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). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with glycogen storage disease type VII (PMID: 24011984). ClinVar contains an entry for this variant (Variation ID: 844552).
Baylor Genetics RCV001047427 SCV004203927 pathogenic Glycogen storage disease, type VII 2024-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001047427 SCV005634624 pathogenic Glycogen storage disease, type VII 2024-02-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001047427 SCV001457678 pathogenic Glycogen storage disease, type VII 2020-09-16 no assertion criteria provided clinical testing

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