ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.452G>A (p.Arg151Gln)

gnomAD frequency: 0.00001  dbSNP: rs1557247552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758332 SCV001986443 uncertain significance not provided 2020-06-02 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243458 SCV002512210 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2021-10-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate

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