Submissions for variant NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)

gnomAD frequency: 0.00918  dbSNP: rs180849348

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152775	SCV000202163	benign	not specified	2014-03-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000152775	SCV000517780	benign	not specified	2017-05-22	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514947	SCV000610539	likely benign	not provided	2017-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV001083065	SCV000639594	benign	ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001083065	SCV002805001	benign	ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14	2021-07-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514947	SCV004158456	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ALG2: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003907437	SCV004718865	benign	ALG2-related condition	2019-12-03	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).