Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000991885 | SCV001143720 | pathogenic | not provided | 2018-12-28 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. |
| Invitae | RCV001047253 | SCV001211193 | pathogenic | Desmin-related myofibrillar myopathy | 2022-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 804737). This sequence change creates a premature translational stop signal (p.Glu108*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive desmin-null muscular dystrophy (PMID: 23575897). It has also been observed to segregate with disease in related individuals. |
| Fulgent Genetics, |
RCV002489466 | SCV002783438 | pathogenic | Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type | 2021-10-18 | criteria provided, single submitter | clinical testing |