ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.11C>T (p.Ser4Phe)

dbSNP: rs2078257508
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774016 SCV001994490 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005040356 SCV005678861 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-05-30 criteria provided, single submitter clinical testing

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