ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.248T>C (p.Val83Ala)

gnomAD frequency: 0.00005  dbSNP: rs138851144
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660376 SCV000782451 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2016-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000660376 SCV000896037 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002532011 SCV003510735 uncertain significance not provided 2023-08-28 criteria provided, single submitter clinical testing This variant is present in population databases (rs138851144, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 83 of the PGK1 protein (p.Val83Ala). This variant has not been reported in the literature in individuals affected with PGK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 547849). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PGK1 protein function. 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.

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