ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.1348del (p.Arg450fs)

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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 RCV003795879 SCV004581332 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg450Aspfs*6) in the DOK7 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the DOK7 protein. 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 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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