ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.626G>A (p.Gly209Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782090 SCV005395286 likely pathogenic Glycogen storage disease, type VII 2024-09-20 criteria provided, single submitter clinical testing Variant summary: PFKM c.626G>A (p.Gly209Asp) results in a non-conservative amino acid change located in the Phosphofructokinase domain (IPR000023) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251464 control chromosomes (gnomAD). c.626G>A has been reported in the literature in at least one individual affected with Glycogen Storage Disease, Type VII (Raben_1995). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Raben_1995). The following publication have been ascertained in the context of this evaluation (PMID: 7825568). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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