ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.5421C>T (p.Phe1807=)

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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 RCV002690815 SCV002994718 uncertain significance DOCK2 deficiency 2022-06-14 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This sequence change affects codon 1807 of the DOCK2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DOCK2 protein.

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