ClinVar Miner

Submissions for variant NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys)

gnomAD frequency: 0.00036  dbSNP: rs143562358
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756793 SCV000884706 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing The p.Arg202Cys variant (rs143562358) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. Another change at this position p.Arg202His has been reported in associated with common variable immunodeficiency (Salzer 2005). However, the p.Arg202His variant was later found in control populations and did no segregate with disease in patients with selective IgA deficiency (Pan-Hammarstrom 2007). The p.Arg202Cys variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 0.13 percent (identified on 31 out of 24,002 chromosomes). The arginine at position 202 is weakly conserved (considering 10 species, Alamut v.2.10.0) and Rhesus and other species have cysteine at this position indicating this change may be evolutionarily tolerated. Computational analyses of the effects of the p.Arg202Cys variant on protein structure and function indicated a neutral effect (SIFT: tolerated, MutationTaster: polymorphism, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Arg202Cys variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV000801725 SCV000941517 likely benign Immunodeficiency, common variable, 2 2025-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000756793 SCV001712899 uncertain significance not provided 2019-04-07 criteria provided, single submitter clinical testing
New York Genome Center RCV000801725 SCV001761121 uncertain significance Immunodeficiency, common variable, 2 2020-06-26 criteria provided, single submitter clinical testing

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