Submissions for variant NM_002435.3(MPI):c.982C>T (p.Arg328Trp)

gnomAD frequency: 0.00577  dbSNP: rs117089191

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080017	SCV000111910	benign	not specified	2012-10-16	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224183	SCV000280776	likely benign	not provided	2015-11-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV001083811	SCV000393950	likely benign	MPI-congenital disorder of glycosylation	2018-01-13	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	RCV000224183	SCV000522331	benign	not provided	2021-07-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23806237)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083811	SCV000645200	benign	MPI-congenital disorder of glycosylation	2025-01-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080017	SCV002064641	likely benign	not specified	2021-02-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224183	SCV002563268	benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	MPI: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000224183	SCV005211060	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001083811	SCV002089788	benign	MPI-congenital disorder of glycosylation	2019-11-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905051	SCV004718027	benign	MPI-related disorder	2020-03-19	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).