ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.146T>A (p.Phe49Tyr)

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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 RCV002995754 SCV003295627 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526954 SCV005039140 uncertain significance not specified 2024-03-29 criteria provided, single submitter clinical testing Variant summary: PGK1 c.146T>A (p.Phe49Tyr) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.2e-05 in 182987 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.146T>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: 2081984). Based on the evidence outlined above, the variant was classified as uncertain significance.

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