Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038112 | SCV001201560 | pathogenic | Desmin-related myofibrillar myopathy | 2019-06-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly86Argfs*32) in the DES gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DES-related conditions. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). For these reasons, this variant has been classified as Pathogenic. |
Ai |
RCV002223970 | SCV002503251 | likely pathogenic | not provided | 2021-12-31 | criteria provided, single submitter | clinical testing |