ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1338del (p.Gln447fs)

dbSNP: rs2135995131
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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 RCV001960493 SCV002236712 pathogenic Glycogen storage disease, type VII 2021-10-03 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 not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln447Argfs*2) 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 RCV001960493 SCV005055309 likely pathogenic Glycogen storage disease, type VII 2024-01-08 criteria provided, single submitter clinical testing

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