Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380227 | SCV001578215 | pathogenic | Desmin-related myofibrillar myopathy | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln132*) in the DES gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 411124). This variant has not been reported in the literature in individuals affected with DES-related conditions. |