ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.872A>G (p.Lys291Arg)

gnomAD frequency: 0.00001  dbSNP: rs1187663822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521761 SCV000620929 uncertain significance not provided 2024-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000767 SCV001157818 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2018-09-21 criteria provided, single submitter clinical testing

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