ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.618dup (p.Pro207fs)

dbSNP: rs1187971271
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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 RCV001972249 SCV002209477 pathogenic Inflammatory bowel disease 28 2020-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro207Thrfs*8) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with IL10RA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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