Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056933 | SCV001221400 | pathogenic | Duchenne muscular dystrophy | 2019-01-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DMD are known to be pathogenic (PMID: 16770791, 25007885). Disruption of this splice site has been observed in several individuals affected with Becker muscular dystrophy (PMID: 19409785, 17041906, Invitae). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 3 of the DMD gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |