ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309296 SCV002603107 likely pathogenic Glycogen storage disease, type VII 2022-03-30 criteria provided, single submitter clinical testing NM_001166686.1(PFKM):c.1534G>T(E512*) is expected to be pathogenic in the context of glycogen storage disease type VII. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in PFKM, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Invitae RCV002309296 SCV004338275 pathogenic Glycogen storage disease, type VII 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu441*) 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: 1725612). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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