Submissions for variant NM_000152.5(GAA):c.1347G>A (p.Ser449=)

gnomAD frequency: 0.00001  dbSNP: rs756938942

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000371494	SCV000342863	uncertain significance	not provided	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001499212	SCV001703971	likely benign	Glycogen storage disease, type II	2023-09-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001499212	SCV001786771	uncertain significance	Glycogen storage disease, type II	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379146	SCV002689898	likely benign	Cardiovascular phenotype	2021-11-28	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	RCV000371494	SCV004703606	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	GAA: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003897636	SCV004716064	likely benign	GAA-related condition	2020-10-23	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).