ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) (rs765903674)

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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 RCV000778186 SCV000914350 uncertain significance Pyruvate kinase deficiency of red cells 2017-10-25 criteria provided, single submitter clinical testing The PKLR c.1081A>G (p.Asn361Asp) missense variant has been reported in two studies in which it is found in a compound heterozygous state with a missense variant two unrelated individuals with hemolytic anemia caused by pyruvate kinase deficiency (Lenzner et al. 1997). The p.Asn361Asp variant was absent from 36 control chromosomes and is reported at a frequency of 0.000305 in the Ashkenazi Jewish population of the Genome Aggregation Database. The evidence for this variant is limited. Therefore, the p.Asn361Asp variant is classified as a variant of unknown significance but suspicious for pathogenicity 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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