ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)

gnomAD frequency: 0.00030  dbSNP: rs139002629
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001095922 SCV001252101 uncertain significance Pyruvate kinase deficiency of red cells 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002557974 SCV003252018 uncertain significance not provided 2022-07-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PKLR-related conditions. This variant is present in population databases (rs139002629, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 518 of the PKLR protein (p.Arg518Cys). ClinVar contains an entry for this variant (Variation ID: 873615). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15").
Revvity Omics, Revvity RCV002557974 SCV003808446 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002557974 SCV004562210 uncertain significance not provided 2023-06-19 criteria provided, single submitter clinical testing

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