Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037267 | SCV001200673 | pathogenic | Desmin-related myofibrillar myopathy | 2019-01-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3*) in the DES gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DES-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). |
Revvity Omics, |
RCV003490014 | SCV004238140 | likely pathogenic | not provided | 2023-05-04 | criteria provided, single submitter | clinical testing |