ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.832G>T (p.Val278Leu)

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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 RCV002871586 SCV003232226 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PGK1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 278 of the PGK1 protein (p.Val278Leu). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25").
Fulgent Genetics, Fulgent Genetics RCV005045018 SCV005678889 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-02-19 criteria provided, single submitter clinical testing

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