ClinVar Miner

Submissions for variant NM_014009.3(FOXP3):c.1190G>A (p.Arg397Gln) (rs1057520529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420714 SCV000515899 pathogenic not provided 2015-03-11 criteria provided, single submitter clinical testing The R397Q variant in the FOXP3 gene has been reported previously in two unrelated male patients withIPEX syndrome (Tsuda et al., 2010; Martin-Santiago et al., 2013). The R397Q variant was not observedin approximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. The R397Q substitutionis a semi-conservative amino acid substitution, which may impact secondary protein structure as theseresidues differ in some properties. This substitution occurs at a position that is conserved across species. Insilico analysis predicts this variant is probably damaging to the protein structure/function. A missensevariant in the same residue (R397W) has been reported in the Human Gene Mutation Database inassociation with IPEX syndrome (Stenson et al., 2014), supporting the functional importance of this regionof the protein. We interpret R397Q in the FOXP3 gene as pathogenic.
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735408 SCV000854563 pathogenic Anemia; Pancytopenia; Pneumonia; Bone marrow hypocellularity criteria provided, single submitter clinical testing

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