Submissions for variant NM_000298.6(PKLR):c.1705C>A (p.Arg569=)

gnomAD frequency: 0.35034  dbSNP: rs1052176

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247864	SCV000303542	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303415	SCV000348592	benign	Pyruvate kinase deficiency of red cells	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001682970	SCV000604839	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001682970	SCV001899826	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001682970	SCV002362362	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000247864	SCV004848609	benign	not specified	2021-12-21	criteria provided, single submitter	clinical testing	The p.Arg569Arg variant in PKLP is classified as benign because it has been identified in 70% (13958/19872) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1, BP7.
Breakthrough Genomics, Breakthrough Genomics	RCV001682970	SCV005282203	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000247864	SCV001743385	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000247864	SCV001927775	benign	not specified		no assertion criteria provided	clinical testing