Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466292 | SCV000563953 | likely pathogenic | Duchenne muscular dystrophy | 2016-09-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 54-55 of the DMD gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with a DMD-related disease, but it has been reported in one affected individual in the Leiden Open-source Variation Database (PMID: 21520333). In addition, similar in-frame deletions in the same region have been reported in individuals with DMD-related muscular dystrophy (PMID: 9628192, 19937601, 19367636). For these reasons, this variant has been classified as Likely Pathogenic. |