ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.19A>G (p.Thr7Ala)

dbSNP: rs1851108814
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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 RCV004765352 SCV005375460 uncertain significance Recombinase activating gene 2 deficiency 2024-04-29 reviewed by expert panel curation NM_000536.4(RAG2):c.19A>G is a missense variant predicted to cause substitution of Threonine by Alanine at amino acid 7 (p.Thr7Ala). 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. RCV001278476 SCV001465490 uncertain significance Histiocytic medullary reticulosis 2020-04-13 no assertion criteria provided clinical testing

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