ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.539C>A (p.Pro180His) (rs1064793251)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481067 SCV000565479 likely pathogenic not provided 2014-01-02 criteria provided, single submitter clinical testing A novel P180H missense change likely associated with RAG2 deficiency was identified. To our knowledge, this variant has neither been published as pathogenic, nor reported as a benign polymorphism. This missense change was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. P180H represents a non-conservative amino acid substitution as a non-polar Proline reside that contains a unique ring structure is replaced with a large, positively-charged Histidine residue. This substitution occurs at a position in the RAG2 protein that is highly conserved among species. Therefore, P180H is a strong candidate for a pathogenic variant; however, the possibility that it is a benign variant cannot be excluded.
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681583 SCV000693931 pathogenic Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research

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