ClinVar Miner

Submissions for variant NM_181078.3(IL21R):c.776del (p.Pro259fs)

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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 RCV003735323 SCV004445217 uncertain significance Cryptosporidiosis-chronic cholangitis-liver disease syndrome 2023-03-16 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with IL21R-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro259Hisfs*121) in the IL21R gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 280 amino acid(s) of the IL21R protein.

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