Submissions for variant NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)

gnomAD frequency: 0.00010  dbSNP: rs140376273

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000393395	SCV000337662	uncertain significance	not provided	2015-11-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631077	SCV000752070	uncertain significance	Glycogen storage disease, type II	2022-03-23	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 721 of the GAA protein (p.Glu721Gln). This variant is present in population databases (rs140376273, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 284866). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GAA protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV000631077	SCV002027296	uncertain significance	Glycogen storage disease, type II	2021-09-05	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000393395	SCV004234867	uncertain significance	not provided	2023-03-30	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000631077	SCV002092104	uncertain significance	Glycogen storage disease, type II	2021-03-24	no assertion criteria provided	clinical testing