Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386331 | SCV001586521 | pathogenic | Desmin-related myofibrillar myopathy | 2020-01-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). This variant has not been reported in the literature in individuals with DES-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr104Argfs*37) in the DES gene. It is expected to result in an absent or disrupted protein product. |