Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000521732 | SCV000617812 | pathogenic | not provided | 2024-02-06 | criteria provided, single submitter | clinical testing | Published functional studies in mouse myoblasts demonstrate that this variant disrupts protein function (PMID: 18165682); Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 17452375, 22661499, 18165682, 16917026) |
| Labcorp Genetics |
RCV001383863 | SCV001583177 | pathogenic | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu382Argfs*25) in the DOK7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acid(s) of the DOK7 protein. 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 individuals with congenital myasthenic syndrome (PMID: 16917026, 22661499). This variant is also known as p.Glu382ArgfsX24. ClinVar contains an entry for this variant (Variation ID: 1277). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects DOK7 function (PMID: 18165682). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV000521732 | SCV002021742 | pathogenic | not provided | 2022-01-21 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003466776 | SCV004194034 | pathogenic | Fetal akinesia deformation sequence 3 | 2024-03-01 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000001339 | SCV000021489 | pathogenic | Congenital myasthenic syndrome 10 | 2006-09-29 | no assertion criteria provided | literature only |