ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.48G>T (p.Gln16His)

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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 RCV004765380 SCV005375462 uncertain significance Recombinase activating gene 2 deficiency 2024-05-01 reviewed by expert panel curation NM_000536.4(RAG2):c.48G>T is a missense variant predicted to cause substitution of Glutamine by Histidine at amino acid 16 (p.Gln16His).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).
Ambry Genetics RCV002850541 SCV003627769 uncertain significance Inborn genetic diseases 2022-07-13 criteria provided, single submitter clinical testing The c.48G>T (p.Q16H) alteration is located in exon 2 (coding exon 1) of the RAG2 gene. This alteration results from a G to T substitution at nucleotide position 48, causing the glutamine (Q) at amino acid position 16 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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