ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.375T>A (p.His125Gln)

gnomAD frequency: 0.00006  dbSNP: rs142134146
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093540 SCV002381802 likely benign not provided 2024-07-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987968 SCV004803350 uncertain significance not specified 2024-01-15 criteria provided, single submitter clinical testing Variant summary: PGK1 c.375T>A (p.His125Gln) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.8e-05 in 1207912 control chromosomes, including 13 hemizygotes. To our knowledge, no occurrence of c.375T>A in individuals affected with Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1580054). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Mayo Clinic Laboratories, Mayo Clinic RCV002093540 SCV005411464 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing BS2, PP3

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