ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys)

dbSNP: rs2149137029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733745 SCV001984611 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2020-05-14 criteria provided, single submitter clinical testing
GeneDx RCV004591560 SCV005079470 uncertain significance not provided 2023-10-11 criteria provided, single submitter clinical testing Reported previously as a maternally inherited hemizygous variant in an individual with seizures (El Naofal et al., 2023); 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: 36703223)

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