ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.2T>C (p.Met1Thr) (rs1554947410)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579362 SCV000680578 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The c.2 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1? using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The variant is not observed in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer RCV000681570 SCV000693918 likely pathogenic Recombinase activating gene 2 deficiency; Primary immunodeficiency 2018-03-06 criteria provided, single submitter research

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