ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.202C>T (p.Arg68Trp)

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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 RCV002938157 SCV003265912 uncertain significance Neutrophil immunodeficiency syndrome 2022-09-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RAC2-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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAC2 protein function. This variant is present in population databases (rs151307781, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 68 of the RAC2 protein (p.Arg68Trp).

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