ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)

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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 RCV002949627 SCV003284653 uncertain significance Glycogen storage disease, type VII 2022-01-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 581 of the PFKM protein (p.Ala581Val). This variant is present in population databases (rs747499720, gnomAD 0.003%). 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 C55"). 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.
Ambry Genetics RCV002967286 SCV003580434 uncertain significance Inborn genetic diseases 2021-09-30 criteria provided, single submitter clinical testing The c.1742C>T (p.A581V) alteration is located in exon 18 (coding exon 17) of the PFKM gene. This alteration results from a C to T substitution at nucleotide position 1742, causing the alanine (A) at amino acid position 581 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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