ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)

gnomAD frequency: 0.00001  dbSNP: rs531875148
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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 RCV000705427 SCV000834423 uncertain significance Glycogen storage disease, type VII 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 370 of the PFKM protein (p.Ala370Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is present in population databases (rs531875148, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with PFKM-related conditions. 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: "Benign"; 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.
Natera, Inc. RCV000705427 SCV001457683 uncertain significance Glycogen storage disease, type VII 2020-09-16 no assertion criteria provided clinical testing

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