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

gnomAD frequency: 0.00021  dbSNP: rs201674983

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811481	SCV001472917	uncertain significance	not provided	2020-08-31	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001811481	SCV003808487	uncertain significance	not provided	2022-07-07	criteria provided, single submitter	clinical testing