ClinVar Miner

Submissions for variant NM_000291.4(PGK1):c.461T>C (p.Leu154Pro)

dbSNP: rs1557247556
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593674 SCV000704702 uncertain significance not provided 2016-12-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003638683 SCV004565184 pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 2022-12-29 criteria provided, single submitter clinical testing The PGK1 c.461T>C; p.Leu154Pro variant (rs1557247556) is reported in the literature as a confirmed de novo variant in one young adult male affected with phosphoglycerate kinase (PGK) deficiency (Ward). This variant is reported in ClinVar (Variation ID: 499279). The variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 154 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.981). Based on available information, this variant is considered to be pathogenic. REFERENCES Ward SK et al. Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]). J Pediatr Hematol Oncol. 2020 May. PMID: 30951021

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.