ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003459979 SCV004194025 likely pathogenic Fetal akinesia deformation sequence 3 2023-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779010 SCV004567853 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-02-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DOK7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the DOK7 gene (p.Asp417Glufs*103). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 88 amino acid(s) of the DOK7 protein and extend the protein by 14 additional amino acid residues. This variant disrupts a region of the DOK7 protein in which other variant(s) (p.Pro486Argfs*15) have been determined to be pathogenic (PMID: 29118959). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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