Submissions for variant NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del)

dbSNP: rs567942993

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000693036	SCV000820890	uncertain significance	Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	2022-03-27	criteria provided, single submitter	clinical testing	This variant, c.1191_1193del, results in the deletion of 1 amino acid(s) of the RAG2 protein (p.Asp397del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs567942993, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with RAG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 571800). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV003989117	SCV004805777	uncertain significance	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	2024-03-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273896	SCV001457488	uncertain significance	Histiocytic medullary reticulosis	2020-04-13	no assertion criteria provided	clinical testing