ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4147C>T (p.Pro1383Ser)

dbSNP: rs938288633
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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 RCV000802644 SCV000942485 uncertain significance DOCK2 deficiency 2018-07-28 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. This sequence change replaces proline with serine at codon 1383 of the DOCK2 protein (p.Pro1383Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DOCK2-related disease. This variant is not present in population databases (ExAC no frequency).

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