ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.857G>A (p.Arg286His)

gnomAD frequency: 0.00006  dbSNP: rs768496070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802642 SCV002049543 uncertain significance Glycogen storage disease, type VII 2020-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001802642 SCV002782435 uncertain significance Glycogen storage disease, type VII 2021-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001802642 SCV003494527 uncertain significance Glycogen storage disease, type VII 2022-02-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 286 of the PFKM protein (p.Arg286His). This variant is present in population databases (rs768496070, gnomAD 0.02%). 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: 1330983). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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