Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810664 | SCV000950890 | pathogenic | Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the DOK7 gene (p.Gln460Profs*59). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the DOK7 protein and extend the protein by 13 additional amino acid residues. This variant is present in population databases (rs747302811, gnomAD 0.03%). This frameshift has been observed in individuals with congenital myasthenic syndrome (PMID: 16917026, 18626973). ClinVar contains an entry for this variant (Variation ID: 1282). 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 frameshift affects DOK7 function (PMID: 18626973). This variant results in an extension of the DOK7 protein. Other variant(s) that result in a similarly extended protein product (p.Pro504Serfs*15) have been observed in individuals with DOK7-related disease (PMID: 16917026). This suggests that these extensions may be clinically significant. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001781162 | SCV002021746 | pathogenic | not provided | 2021-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001781162 | SCV002062537 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DOK7: PP1:Strong, PM2, PVS1:Moderate, PP4, PS3:Supporting |
Institute for Medical Genetics and Human Genetics, |
RCV000001345 | SCV002578150 | likely pathogenic | Congenital myasthenic syndrome 10 | 2022-09-27 | criteria provided, single submitter | clinical testing | |
Department of Medical Genetics, |
RCV003232983 | SCV002760188 | likely pathogenic | Fetal akinesia deformation sequence 3 | 2022-12-12 | criteria provided, single submitter | research | |
Baylor Genetics | RCV003232983 | SCV004194012 | pathogenic | Fetal akinesia deformation sequence 3 | 2023-10-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000001345 | SCV000021495 | pathogenic | Congenital myasthenic syndrome 10 | 2008-07-01 | no assertion criteria provided | literature only |