ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.810_811del (p.His272fs)

dbSNP: rs778227501
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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 RCV001043130 SCV001206846 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 2019-03-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DOK7-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the DOK7 protein. Other variant(s) that disrupt this region (p.Ala378Serfs*30) have been determined to be pathogenic (PMID: 16917026, 22661499, 18165682, 18626973, 25237101). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change results in a premature translational stop signal in the DOK7 gene (p.His272Leufs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 233 amino acids of the DOK7 protein.

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