ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.3159del (p.Ser1054fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003746968 SCV004411455 pathogenic Developmental and epileptic encephalopathy, 23 2023-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DOCK7-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1054Valfs*3) in the DOCK7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191).

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