ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1323dup (p.Cys442fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003788429 SCV004570053 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-11-25 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the DOK7 gene (p.Cys442Valfs*77). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acid(s) of the DOK7 protein and extend the protein by 13 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DOK7-related conditions. This variant results in an extension of the DOK7 protein. Other variant(s) that result in a similarly extended protein product (p.Gln460Profs*59) have been determined to be pathogenic (PMID: 16917026, 18626973). This suggests that these extensions are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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