Submissions for variant NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)

gnomAD frequency: 0.02088  dbSNP: rs34258285

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078593	SCV000110449	benign	not specified	2012-12-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078593	SCV000303555	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000607305	SCV000399677	likely benign	PMM2-congenital disorder of glycosylation	2018-03-06	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000078593	SCV000519729	benign	not specified	2016-03-04	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078593	SCV000540062	likely benign	not specified	2016-06-02	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.9% in ExAC, 5% Finnish, 36 homozygotes
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000607305	SCV000743898	likely benign	PMM2-congenital disorder of glycosylation	2014-10-09	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000607305	SCV000803533	benign	PMM2-congenital disorder of glycosylation	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign, for Congenital disorder of glycosylation, type IA, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BS3-Supporting => BS3 downgraded in strength to supporting (PMID:21541725).
Invitae	RCV000607305	SCV001728180	benign	PMM2-congenital disorder of glycosylation	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000078593	SCV002050876	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002055093	SCV002497882	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PMM2: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607305	SCV000733553	benign	PMM2-congenital disorder of glycosylation		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078593	SCV001923956	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000607305	SCV002089489	benign	PMM2-congenital disorder of glycosylation	2019-11-05	no assertion criteria provided	clinical testing