ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.491A>T (p.Asp164Val)

dbSNP: rs137852538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004595877 SCV005089780 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing
GeneDx RCV004595877 SCV005201717 pathogenic not provided 2023-08-29 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect in enzyme activity (PMID: 22348148); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16740138, 7577653, 24970202, 26975778, 26396085, 8043870, 30887539, 30975619, 22348148)
OMIM RCV000010632 SCV000030858 pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2006-07-01 no assertion criteria provided literature only

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