ClinVar Miner

Submissions for variant NC_000004.11:g.(?_3478049)_(3478289_?)del

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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 RCV004580769 SCV005064793 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2022-12-01 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 a gross deletion of the genomic region encompassing exon(s) 4 of the DOK7 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant disrupts a region of the DOK7 protein in which other variant(s) (p.Arg158) have been determined to be pathogenic (PMID: 17452375, 18165682, 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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