ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1420A>T (p.Asn474Tyr)

dbSNP: rs1186355547
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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 RCV001870977 SCV002135793 uncertain significance DOCK2 deficiency 2021-07-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 474 of the DOCK2 protein (p.Asn474Tyr). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. 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. 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.

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