ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1378dup (p.Gln460fs)

dbSNP: rs606231133
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Total submissions: 7
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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, Revvity Omics RCV001781162 SCV002021746 pathogenic not provided 2021-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen 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, Charité - Universitätsmedizin Berlin RCV000001345 SCV002578150 likely pathogenic Congenital myasthenic syndrome 10 2022-09-27 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 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

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