Submissions for variant NM_006302.3(MOGS):c.499A>C (p.Arg167=)

gnomAD frequency: 0.00033  dbSNP: rs371747622

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723648	SCV000113310	uncertain significance	not provided	2013-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000081379	SCV000717580	likely benign	not specified	2018-03-15	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	RCV001000676	SCV001097366	likely benign	MOGS-congenital disorder of glycosylation	2024-01-04	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000676	SCV001157707	likely benign	MOGS-congenital disorder of glycosylation	2019-03-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002513829	SCV003602220	likely benign	Inborn genetic diseases	2022-03-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000723648	SCV004155076	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	MOGS: BP4, BP7