ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.77G>C (p.Gly26Ala)

dbSNP: rs1851105838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV004765351 SCV005375466 uncertain significance Recombinase activating gene 2 deficiency 2024-05-01 reviewed by expert panel curation NM_000536.4(RAG2):c.77G>C is a missense variant predicted to cause substitution of Glycine by Alanine at amino acid 26 (p.Gly26Ala).This missense variant is located in the core domain (amino acids 1-383) (PM1_supporting). The variant is absent in gnomAD v4 (PM2_supporting). To our knowledge, this variant has not been reported in the literature in individuals affected with RAG2 related conditions or in functional studies. In summary, this variant meets the criteria to be classified as a variant of uncertain significance for autosomal recessive severe combined immunodeficiency due to RAG2 deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP:PM1_supporting, PM2_supporting (VCEP specifications version 1).
Natera, Inc. RCV001278475 SCV001465489 uncertain significance Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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