ClinVar Miner

Submissions for variant NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter)

gnomAD frequency: 0.00011  dbSNP: rs121434492
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725837 SCV000339833 pathogenic not provided 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000008497 SCV001202873 pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2024-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln32*) in the IL12RB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IL12RB1 are known to be pathogenic (PMID: 9603733, 12591909). This variant is present in population databases (rs121434492, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Mendelian susceptibility to mycobacterial disease (PMID: 9603733). ClinVar contains an entry for this variant (Variation ID: 8032). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000725837 SCV001246165 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000725837 SCV002502264 pathogenic not provided 2022-03-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000008497 SCV002811763 pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2022-04-29 criteria provided, single submitter clinical testing
OMIM RCV000008497 SCV000028705 pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 1998-05-29 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004755723 SCV005345979 pathogenic IL12RB1-related disorder 2024-04-13 no assertion criteria provided clinical testing The IL12RB1 c.94C>T variant is predicted to result in premature protein termination (p.Gln32*). This variant was reported in three individuals with interleukin-12 receptor deficiency (de Jong et al. 1998. PubMed ID: 9603733; Fieschi C et al 2003. PubMed ID: 12591909). This variant is reported in 0.018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in IL12RB1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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