ClinVar Miner

Submissions for variant NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)

gnomAD frequency: 0.00011  dbSNP: rs141550921
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803477 SCV002048087 uncertain significance Glycogen storage disease, type VII 2021-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001803477 SCV003278281 uncertain significance Glycogen storage disease, type VII 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 642 of the PFKM protein (p.Asn642Ser). This variant is present in population databases (rs141550921, 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: 1330385). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002544391 SCV003757480 uncertain significance Inborn genetic diseases 2024-06-07 criteria provided, single submitter clinical testing The c.1925A>G (p.N642S) alteration is located in exon 20 (coding exon 19) of the PFKM gene. This alteration results from a A to G substitution at nucleotide position 1925, causing the asparagine (N) at amino acid position 642 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001803477 SCV004235757 uncertain significance Glycogen storage disease, type VII 2023-03-26 criteria provided, single submitter clinical testing

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