Submissions for variant NM_006302.3(MOGS):c.85C>G (p.Arg29Gly)

gnomAD frequency: 0.00044  dbSNP: rs369653963

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000429379	SCV000527854	likely benign	not specified	2017-08-03	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.
Invitae	RCV000544989	SCV000641226	benign	MOGS-congenital disorder of glycosylation	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422324	SCV004155077	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	MOGS: BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000544989	SCV004563055	benign	MOGS-congenital disorder of glycosylation	2023-11-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922463	SCV004746609	benign	MOGS-related condition	2019-09-09	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).