ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)

dbSNP: rs763144501
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593770 SCV000705722 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000689766 SCV000817432 uncertain significance Duchenne muscular dystrophy 2024-08-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 366 of the DMD protein (p.Gly366Glu). This variant is present in population databases (rs763144501, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of DMD-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 499974). 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 DMD protein function with a negative predictive value of 95%. 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.
Fulgent Genetics, Fulgent Genetics RCV002483615 SCV002788284 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-09-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000593770 SCV003830044 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834893 SCV002090410 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-10-10 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.