ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys)

gnomAD frequency: 0.00004  dbSNP: rs138871700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001091 SCV001158226 pathogenic not specified 2019-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550747 SCV003517574 uncertain significance not provided 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 359 of the PKLR protein (p.Arg359Cys). This variant is present in population databases (rs138871700, gnomAD 0.004%). This missense change has been observed in individual(s) with pyruvate kinase deficiency (PMID: 8483951, 9166866, 32043619). ClinVar contains an entry for this variant (Variation ID: 811313). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Arg359 amino acid residue in PKLR. Other variant(s) that disrupt this residue have been observed in individuals with PKLR-related conditions (PMID: 27460399), which suggests that this may be a clinically significant amino acid residue. 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.
Revvity Omics, Revvity RCV002550747 SCV003808470 likely pathogenic not provided 2023-04-06 criteria provided, single submitter clinical testing

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