ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4892G>A (p.Gly1631Asp)

dbSNP: rs2113876372
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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 RCV001973014 SCV002248045 uncertain significance DOCK2 deficiency 2021-09-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This sequence change replaces glycine with aspartic acid at codon 1631 of the DOCK2 protein (p.Gly1631Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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