ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.479C>T (p.Ser160Leu) (rs756694972)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479386 SCV000565467 likely pathogenic not provided 2013-02-26 criteria provided, single submitter clinical testing The S160L missense change represents a non-conservative amino acid substitution, as a polar Serine residue is replaced with a non-polar Leucine residue. This substitution occurs at a highly conserved position in RAG2 and is located in the core region of the protein, which is responsible for catalytic function. Therefore, S160L is a strong candidate for a pathogenic variant, which is further strengthened by the presence of the novel R73C mutation on the opposite allele in this particular individual. However, the possibility that S160L is a benign variant cannot be excluded.
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681582 SCV000693930 uncertain significance Histiocytic medullary reticulosis; Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research

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