Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000541878 | SCV000656468 | pathogenic | Developmental and epileptic encephalopathy, 31 | 2023-02-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg421*) in the DNM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNM1 are known to be pathogenic (PMID: 34172529). This variant is present in population databases (rs200535620, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 33004838). ClinVar contains an entry for this variant (Variation ID: 476058). For these reasons, this variant has been classified as Pathogenic. |