ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)

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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 RCV002918957 SCV003260802 likely pathogenic Neutrophil immunodeficiency syndrome 2021-12-22 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gln61 amino acid residue in RAC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 33188496). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 has not been reported in the literature in individuals affected with RAC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 61 of the RAC2 protein (p.Gln61Lys).

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