Submissions for variant NM_002633.3(PGM1):c.262A>G (p.Ile88Val)

gnomAD frequency: 0.16859  dbSNP: rs855314

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000350881	SCV000358618	benign	PGM1-congenital disorder of glycosylation	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.
Illumina Laboratory Services, Illumina	RCV000389349	SCV000358619	likely benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000425439	SCV000514108	benign	not specified	2016-01-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
SIB Swiss Institute of Bioinformatics	RCV000425439	SCV000803446	benign	not specified	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium.
Invitae	RCV000350881	SCV001725261	benign	PGM1-congenital disorder of glycosylation	2024-02-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675300	SCV000800965	benign	not provided	2017-04-12	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000425439	SCV001744051	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000425439	SCV001954068	benign	not specified		no assertion criteria provided	clinical testing