ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1060G>A (p.Val354Met)

gnomAD frequency: 0.00006  dbSNP: rs930337550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261936 SCV002541530 uncertain significance not provided 2021-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003095914 SCV003468310 uncertain significance Glycogen storage disease, type VII 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 354 of the PFKM protein (p.Val354Met). This variant is present in population databases (no rsID available, gnomAD 0.1%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity RCV003095914 SCV003814889 uncertain significance Glycogen storage disease, type VII 2019-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047422 SCV005001557 uncertain significance Inborn genetic diseases 2023-10-24 criteria provided, single submitter clinical testing The c.1060G>A (p.V354M) alteration is located in exon 11 (coding exon 10) of the PFKM gene. This alteration results from a G to A substitution at nucleotide position 1060, causing the valine (V) at amino acid position 354 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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