ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1675C>T (p.Arg559Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137066 SCV003825436 pathogenic not provided 2022-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003137066 SCV005834758 uncertain significance not provided 2024-08-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg559*) in the PKLR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the PKLR protein. This variant is present in population databases (rs532230312, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with pyruvate kinase deficiency (PMID: 9827908, 34201899, 36892591). ClinVar contains an entry for this variant (Variation ID: 2437900). 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.

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