ClinVar Miner

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

gnomAD frequency: 0.00071  dbSNP: rs140913030
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Total submissions: 8
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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: 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.
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 RCV004532754 SCV004731399 likely benign DMD-related disorder 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).

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