ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)

dbSNP: rs755522396
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507461 SCV001713044 uncertain significance not provided 2020-01-09 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001729927 SCV001976674 likely pathogenic Pyruvate kinase deficiency of red cells 2021-10-01 criteria provided, single submitter clinical testing PM1, PM2, PP2, PP3, PP5
Revvity Omics, Revvity RCV001507461 SCV003809444 likely pathogenic not provided 2023-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001507461 SCV004292891 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKLR protein function. ClinVar contains an entry for this variant (Variation ID: 1162854). This missense change has been observed in individual(s) with pyruvate kinase deficiency (PMID: 7706479, 34008892). This variant is present in population databases (rs755522396, gnomAD 0.004%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 458 of the PKLR protein (p.Gly458Asp).

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