ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315160 SCV004014782 uncertain significance Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2023-03-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003988107 SCV004804114 uncertain significance not specified 2024-01-04 criteria provided, single submitter clinical testing Variant summary: PGK1 c.545C>T (p.Pro182Leu) 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 1.1e-05 in 183361 control chromosomes (gnomAD). 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.545C>T 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: 2573046). Based on the evidence outlined above, the variant was classified as uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV003315160 SCV005678885 likely benign Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2024-05-24 criteria provided, single submitter clinical testing

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