ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.958G>A (p.Val320Met)

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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 RCV004771709 SCV005382399 likely pathogenic Pyruvate kinase deficiency of red cells 2023-05-20 criteria provided, single submitter clinical testing The observed missense variant c.958G>A(p.Val320Met) in PKLR gene has been reported previously in compound heterozygous state in an individual with Red cell pyruvate kinase deficiency (Fermo E, et al., 2005). Another missense variant c.958G>C, p.Val320Leu reported to be disease causing (van Wijk R, et al., 2009). The c.958G>A variant is absent in gnomAD Exomes. The amino acid Valine at position 320 is changed to a Methionine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen-probabaly damaging, SIFT-tolerated and Mutation Taster-disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid p.Val320Met in PKLR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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