ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.391_393del (p.Ile131del) (rs886045351)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000371504 SCV000348605 likely pathogenic Pyruvate kinase deficiency of red cells 2017-04-28 criteria provided, single submitter clinical testing The PKLR c.391_393delATC (p.Ile131del) in-frame deletion variant has been reported in three studies in which it was found in a compound heterozygous state with a second variant in three individuals with pyruvate kinase deficiency (Baronciani et al. 1993; Baronciani et al. 1994; Baronciani et al. 1995). The p.Ile131del variant was also found in a heterozygous state in an unaffected parent of one of the probands. Control data are not reported for this variant, which is not found in the 1000 Genomes Project, the Exome Sequencing Project, or the Exome Aggregation Consortium. PK enzyme activity in red blood cells for individuals carrying the p.Ile131del variant was shown to be from 5.9% to 24.6% of wild type activity (Baronciani et al. 1995). Based on the evidence, the p.Ile131del variant is classified as likely pathogenic for pyruvate kinase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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