ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.211C>G (p.Pro71Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002745568 SCV003007523 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PGK1-related conditions. This variant is present in population databases (rs782378406, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 71 of the PGK1 protein (p.Pro71Ala).
Fulgent Genetics, Fulgent Genetics RCV005044954 SCV005678869 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-06-15 criteria provided, single submitter clinical testing

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