ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)

dbSNP: rs1233958453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001950953 SCV002231754 pathogenic Glycogen storage disease, type VII 2021-06-13 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 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.Ser694Leufs*3) 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 RCV001950953 SCV004203952 likely pathogenic Glycogen storage disease, type VII 2023-01-04 criteria provided, single submitter clinical testing

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