ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4213+1G>A

dbSNP: rs1561898523
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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 RCV000701898 SCV000830721 likely pathogenic DOCK2 deficiency 2017-12-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 DOCK2 are known to be pathogenic (PMID: 26083206). This variant has not been reported in the literature in individuals with DOCK2-related disease. This sequence change affects a donor splice site in intron 41 of the DOCK2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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