ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1843+1G>T

dbSNP: rs1761749097
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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 RCV001050161 SCV001214257 likely pathogenic DOCK2 deficiency 2019-05-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 18 of the DOCK2 gene. It is expected to disrupt RNA splicing and likely results 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 DOCK2-related conditions. 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). 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.

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