ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.4783del (p.Met1595fs)

dbSNP: rs1553156203
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556821 SCV000655273 pathogenic Developmental and epileptic encephalopathy, 23 2018-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met1586Cysfs*3) in the DOCK7 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOCK7-related disease. Loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191). For these reasons, this variant has been classified as Pathogenic.

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