ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.97A>G (p.Ile33Val)

dbSNP: rs2145831322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808239 SCV002058862 uncertain significance Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 2022-01-03 criteria provided, single submitter clinical testing The variant not observed in the gnomAD v2.1.1 dataset (PM2_M). A missense variant is a common mechanism associated with Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (PP2_P). In silico tool predictions suggest no damaging effect of the variant on gene or gene product (REVEL:0.336, 3CNET:0.021, BP4_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869585 SCV002177778 uncertain significance Neutrophil immunodeficiency syndrome 2022-07-05 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 not expected to disrupt RAC2 protein function. ClinVar contains an entry for this variant (Variation ID: 1333551). 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 33 of the RAC2 protein (p.Ile33Val).

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