Submissions for variant NM_002435.3(MPI):c.10C>T (p.Pro4Ser)

gnomAD frequency: 0.00133  dbSNP: rs143982014

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000512728	SCV000334671	uncertain significance	not provided	2015-08-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000601989	SCV000393939	uncertain significance	MPI-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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000391232	SCV000524122	benign	not specified	2017-12-26	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.
CeGaT Center for Human Genetics Tuebingen	RCV000512728	SCV000608729	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MPI: BS2
Invitae	RCV000601989	SCV000766503	likely benign	MPI-congenital disorder of glycosylation	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939970	SCV004751928	benign	MPI-related disorder	2022-09-08	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601989	SCV000733472	likely benign	MPI-congenital disorder of glycosylation		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000512728	SCV001922157	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000512728	SCV001928727	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000512728	SCV001973983	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000601989	SCV002089773	benign	MPI-congenital disorder of glycosylation	2019-10-21	no assertion criteria provided	clinical testing