ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)

gnomAD frequency: 0.00002  dbSNP: rs918627824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625798 SCV000746351 pathogenic Pyruvate kinase deficiency of red cells 2017-12-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488737 SCV004238587 likely pathogenic not provided 2023-03-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003488737 SCV004292894 pathogenic not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 111 of the PKLR protein (p.Gly111Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with pyruvate kinase deficiency (PMID: 19085939, 36892591). ClinVar contains an entry for this variant (Variation ID: 522658). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PKLR protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.

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