Submissions for variant NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln)

gnomAD frequency: 0.00071  dbSNP: rs140913030

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000218962	SCV000271668	uncertain significance	not specified	2015-03-19	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Glu1826Gln va riant in DMD has not been previously reported in individuals with cardiomyopathy or muscular dystrophy, but has been identified in 0.27% (23/8401) of African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs140913030). Computational prediction tools and conservation analysi s do not provide strong support for or against an impact to the protein, althoug h 2 birds (scarlet macaw and rock pigeon) carry a glutamine (Gln) at this positi on, raising the possibility that this change may be tolerated. In summary, whil e the clinical significance of the p.Glu1826Gln variant is uncertain, its freque ncy and the presence of the variant amino acid in other species suggests that it is more likely to be benign.
Invitae	RCV001087654	SCV000288058	likely benign	Duchenne muscular dystrophy	2024-01-30	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000218962	SCV000341589	benign	not specified	2016-04-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756029	SCV000883734	benign	not provided	2017-07-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000756029	SCV001863660	benign	not provided	2020-10-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002347839	SCV002651207	benign	Cardiovascular phenotype	2019-04-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000756029	SCV004164726	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	DMD: BS1
PreventionGenetics, part of Exact Sciences	RCV003919879	SCV004731399	likely benign	DMD-related condition	2019-02-21	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).