ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.603G>A (p.Trp201Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004720644 SCV005329406 pathogenic Pyruvate kinase deficiency of red cells 2023-05-20 criteria provided, single submitter clinical testing The observed stop gain c.603G>A (p.Trp201Ter) variant in PKLR gene has been reported previously in compound heterozygous state in an individual affected with pyruvate kinase deficiency (Percy et al. 2007). The c.603G>A variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Computation evidence (Mutation Taster - disease causing) predict a damaging effect on protein structure and function for this variant. The nucleotide change c.603G>A in PKLR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.

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