ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.507G>A (p.Gly169=) (rs201674983)

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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 RCV000778188 SCV000914352 uncertain significance Pyruvate kinase deficiency of red cells 2018-10-29 criteria provided, single submitter clinical testing The PKLR c.507G>A (p.Gly169Gly) variant has been reported in one study, in which it is found in a compound heterozygous state with a stop-gained variant in one individual with pyruvate kinase deficiency (Fermo et al, 2005). The p.Gly169Gly variant is noted to alter the consensus sequence of a donor splice site. Control data are unavailable for this variant, which is reported at a frequency of 0.000350 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the limited evidence, the p.Gly169Gly 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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