Submissions for variant NM_000152.5(GAA):c.351G>A (p.Leu117=)

gnomAD frequency: 0.00003  dbSNP: rs574947353

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000355526	SCV000335649	likely benign	not specified	2015-10-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540488	SCV000626606	benign	Glycogen storage disease, type II	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001697647	SCV000717412	likely benign	not provided	2020-07-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000355526	SCV001426892	likely benign	not specified	2020-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450806	SCV002617871	likely benign	Cardiovascular phenotype	2022-07-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV004751424	SCV005360923	benign	GAA-related disorder	2024-07-11	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).