ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.99G>A (p.Trp33Ter)

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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 RCV005202946 SCV005835976 pathogenic Inflammatory bowel disease 28 2024-06-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp33*) in the IL10RA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IL10RA are known to be pathogenic (PMID: 24216686, 25373860, 26822028). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with early-onset inflammatory bowel disease (PMID: 28267044, 30212871). For these reasons, this variant has been classified as Pathogenic.

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