ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2485G>T (p.Val829Leu)

dbSNP: rs1764491389
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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 RCV001067903 SCV001232987 uncertain significance DOCK2 deficiency 2022-10-28 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 861387). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 829 of the DOCK2 protein (p.Val829Leu).

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