ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3530+1G>A

dbSNP: rs1564025732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694410 SCV000822855 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2018-01-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 28 of the DOCK8 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 DOCK8-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). 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.
Fulgent Genetics, Fulgent Genetics RCV000694410 SCV005677391 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2024-04-11 criteria provided, single submitter clinical testing

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