ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1594G>A (p.Val532Met) (rs149411090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522816 SCV000618783 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing The V532M variant in the DOCK2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 29/10406 (0.27%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The V532M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret V532M as a variant of uncertain significance.
Invitae RCV000531530 SCV000656390 likely benign Immunodeficiency 40 2017-11-22 criteria provided, single submitter clinical testing

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