ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)

gnomAD frequency: 0.00001  dbSNP: rs201255024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262945 SCV001441004 pathogenic Pyruvate kinase deficiency of red cells 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001262945 SCV003807722 pathogenic Pyruvate kinase deficiency of red cells 2023-01-18 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PM2 moderated, PM3 very strong, PP3 supporting
Revvity Omics, Revvity RCV003135903 SCV003822996 pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003405471 SCV004112726 pathogenic PKLR-related condition 2023-03-14 criteria provided, single submitter clinical testing The PKLR c.1594C>T variant is predicted to result in the amino acid substitution p.Arg532Trp. This variant has previously been reported to be causative of autosomal recessive pyruvate kinase deficiency (Lenzner et al 1994. PubMed ID: 8180378; Valentini G et al 2002. PubMed ID: 11960989; Russo R et al 2018. PubMed ID: 29396846). This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-155261571-G-A). This variant is interpreted as pathogenic.

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