ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.258_279dup (p.Asn94fs)

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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 RCV002775181 SCV003027252 pathogenic Inflammatory bowel disease 28 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn94Aspfs*36) 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 present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IL10RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1978943). For these reasons, this variant has been classified as Pathogenic.

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