Submissions for variant NM_015599.3(PGM3):c.521G>T (p.Arg174Leu)

dbSNP: rs73749732

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546230	SCV000655103	benign	Immunodeficiency 23	2024-01-31	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000546230	SCV000898871	uncertain significance	Immunodeficiency 23	2021-03-30	criteria provided, single submitter	clinical testing	PGM3 NM_001199917.1 exon 6 p.Arg202Leu (c.605G>T): This variant has not been reported in the literature but is present in 0.9% (220/24038) of African alleles, including 2 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs73749732). This variant is present in ClinVar (Variation ID:475003). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genetic Services Laboratory, University of Chicago	RCV001821619	SCV002068836	likely benign	not specified	2021-11-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004754472	SCV005359393	likely benign	PGM3-related disorder	2024-03-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).