Submissions for variant NM_000152.5(GAA):c.1047C>T (p.Ser349=)

gnomAD frequency: 0.00001  dbSNP: rs138262940

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000734226	SCV000862350	uncertain significance	not provided	2018-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089377	SCV001021825	likely benign	Glycogen storage disease, type II	2024-09-26	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001089377	SCV001810584	uncertain significance	Glycogen storage disease, type II	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000734226	SCV002056079	likely benign	not provided	2020-10-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002397516	SCV002708294	likely benign	Cardiovascular phenotype	2022-09-02	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	RCV003892670	SCV004714223	likely benign	GAA-related disorder	2020-10-23	no assertion criteria provided	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).