Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000456554 | SCV000552177 | uncertain significance | Desmin-related myofibrillar myopathy | 2018-03-22 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the DES gene (p.Glu452Thrfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acids of the DES protein. 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 disease. ClinVar contains an entry for this variant (Variation ID: 411148). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DES cause disease. |