ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6614+3310G>T

dbSNP: rs797045526
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
Genetic Services Laboratory, University of Chicago RCV000192688 SCV000247192 likely pathogenic Duchenne muscular dystrophy 2014-10-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727646 SCV000854938 likely pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000192688 SCV002248837 likely pathogenic Duchenne muscular dystrophy 2021-08-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 210853). This variant has been observed in individual(s) with Duchenne muscular dystrophy (PMID: 18059005). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change falls in intron 45 of the DMD gene. It does not directly change the encoded amino acid sequence of the DMD protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that this variant results in altered splicing, which introduces a premature termination codon (PMID: 18059005). The resulting mRNA is expected to undergo nonsense-mediated decay.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700578 SCV005204262 likely pathogenic Qualitative or quantitative defects of dystrophin 2024-06-13 criteria provided, single submitter clinical testing Variant summary: DMD c.6614+3310G>T is located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Three predict the variant creates a cryptic 5' donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (Gurvich_2008). The frequency of this variant in the general population could not be determined as the technology used for large population databases (ExAC, gnomAD, ESP, 1000G) cannot detect variants of this type. c.6614+3310G>T has been reported in the literature in individuals affected with Muscular dystrophy, Duchenne (DMD) (example: Gurvich_2008). The following publication has been ascertained in the context of this evaluation (PMID: 18059005). ClinVar contains an entry for this variant (Variation ID: 210853). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005042411 SCV005682865 likely pathogenic Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2024-06-14 criteria provided, single submitter 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.