ClinVar Miner

Submissions for variant NM_005535.3(IL12RB1):c.64+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003587434 SCV004296925 pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 2023-02-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individual(s) with clinical features of Mendelian susceptibility to mycobacterial disease (PMID: 21905505). This sequence change affects a donor splice site in intron 1 of the IL12RB1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IL12RB1 are known to be pathogenic (PMID: 9603733, 12591909).

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