ClinVar Miner

Submissions for variant NM_001374259.2(IL12RB2):c.1155dup (p.Val386fs)

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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 RCV002913880 SCV003254640 uncertain significance not provided 2024-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val386Serfs*4) in the IL12RB2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in IL12RB2 cause disease. This variant is present in population databases (rs777989129, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with IL12RB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2046789). 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.

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