ClinVar Miner

Submissions for variant NM_001367561.1(DOCK7):c.4380-1G>T

gnomAD frequency: 0.00002  dbSNP: rs774949595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377226 SCV001574501 likely pathogenic Developmental and epileptic encephalopathy, 23 2021-07-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DOCK7 are known to be pathogenic (PMID: 24814191). This variant has not been reported in the literature in individuals with DOCK7-related conditions. This variant is present in population databases (rs774949595, ExAC 0.006%). This sequence change affects an acceptor splice site in intron 34 of the DOCK7 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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