ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe)

gnomAD frequency: 0.00071  dbSNP: rs148781346
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000235165 SCV000112502 likely benign not specified 2016-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001703996 SCV000235869 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Invitae RCV000476221 SCV000560842 likely benign Duchenne muscular dystrophy 2024-01-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000235165 SCV000711684 uncertain significance not specified 2017-05-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Leu1365Phe va riant in DMD has not been previously reported in individuals with muscular dystr ophy, but has been identified in 0.19% (35/18082) of African chromosomes by the genome Aggregation Database (gnomAD,; dbSNP rs 148781346). This variant has been reported in ClinVar (Variation ID: 94611). Ple ase note that for diseases with clinical variability, reduced penetrance, or rec essive inheritance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools and conservation analysis su ggest that the p.Leu1365Phe variant may impact the protein, though this informat ion is not predictive enough to determine pathogenicity. In summary, while the c linical significance of the p.Leu1365Phe variant is uncertain, its frequency sug gests that it is more likely to be benign.
Ambry Genetics RCV002321578 SCV002628995 likely benign Cardiovascular phenotype 2019-03-26 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000235165 SCV003922913 likely benign not specified 2023-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542776 SCV004771399 likely benign DMD-related disorder 2020-10-30 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).

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.