ClinVar Miner

Submissions for variant NC_000004.11:g.(?_3478200)_(3482970_?)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 RCV004580770 SCV005064794 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2023-12-18 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 4 (c.463_533-4296del) of the DOK7 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DOK7 are known to be pathogenic (PMID: 16794080, 16917026, 18626973, 19261599). 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.Gly172Arg) have been determined to be pathogenic (PMID: 20012313, 28716243, 30266093). 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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