ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)

dbSNP: rs758111714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986325 SCV001135297 likely pathogenic Developmental and epileptic encephalopathy, 23 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000986325 SCV001579785 pathogenic Developmental and epileptic encephalopathy, 23 2021-02-24 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 with DOCK7-related conditions. ClinVar contains an entry for this variant (Variation ID: 801493). This variant is present in population databases (rs758111714, ExAC 0.001%). This sequence change creates a premature translational stop signal (p.Arg445*) 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).
Genome-Nilou Lab RCV000986325 SCV004178488 likely pathogenic Developmental and epileptic encephalopathy, 23 2023-04-11 criteria provided, single submitter clinical testing

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