ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.307del (p.Arg103fs)

gnomAD frequency: 0.00001  dbSNP: rs1433205059
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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 RCV001508887 SCV001715320 likely pathogenic not provided 2020-04-28 criteria provided, single submitter clinical testing PVS1, PM2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001732191 SCV001984864 pathogenic Pyruvate kinase deficiency of red cells 2020-05-15 criteria provided, single submitter clinical testing This frameshifting variant in exon 3 of 11 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/251388) and thus is presumed to be rare. Based on the available evidence, the c.307del (p.Arg103AlafsTer5) variant is classified as Pathogenic.
GeneDx RCV001508887 SCV002765286 pathogenic not provided 2022-06-16 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 7706479, 26832193)
Revvity Omics, Revvity RCV001508887 SCV003822930 pathogenic not provided 2022-09-08 criteria provided, single submitter clinical testing

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