ClinVar Miner

Submissions for variant NM_002872.5(RAC2):c.169G>A (p.Asp57Asn)

dbSNP: rs74315507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000008011 SCV000955498 pathogenic Neutrophil immunodeficiency syndrome 2020-03-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 57 of the RAC2 protein (p.Asp57Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change disrupts RAC2 protein function in a dominant negative fashion (PMID: 10758162, 10961859, 11278678, 14676277). This variant has been observed to be de novo in an individual affected with neutrophil immunodeficiency syndrome (PMID: 21167572). In addition, it has been reported in other individuals with similar phenotypes (PMID: 10758162, 10961859). ClinVar contains an entry for this variant (Variation ID: 7575). This variant is not present in population databases (ExAC no frequency).
OMIM RCV000008011 SCV000028216 pathogenic Neutrophil immunodeficiency syndrome 2000-09-01 no assertion criteria provided literature only

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