ClinVar Miner

Submissions for variant NM_000298.6(PKLR):c.1436G>A (p.Arg479His)

gnomAD frequency: 0.00004  dbSNP: rs118204085
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001781165 SCV000604838 pathogenic not provided 2020-01-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781165 SCV002018836 pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000001574 SCV002073050 pathogenic Pyruvate kinase deficiency of red cells criteria provided, single submitter clinical testing The missense variant p.R479H in PKLR (NM_000298.6) has been reported in homozygous state in affected patients including those of the Amish ancestry (Kedar P et al; Bowman HS et al). The variant has been submitted to ClinVar as Pathogenic. In silico tools predict the variant to be damaging and the residue is conserved across species.For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001781165 SCV002245466 pathogenic not provided 2021-10-14 criteria provided, single submitter clinical testing
GeneDx RCV001781165 SCV002765856 pathogenic not provided 2022-07-01 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (damage of natural splice donor site resulting in exon skipping and alteration of kinetic property) (Valentini et al., 2002; Wijk et al., 2004); In silico analysis supports that this missense variant has a splicing effect; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 8161798, 16704447, 18759866, 15059150, 31028937, 32036089, 34987744, 11960989)
OMIM RCV000001574 SCV000021730 pathogenic Pyruvate kinase deficiency of red cells 2009-02-01 no assertion criteria provided literature only

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