ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.832del (p.Leu278fs)

dbSNP: rs1601839547
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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 RCV001341667 SCV001535549 uncertain significance Inflammatory bowel disease 25 2023-07-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu278Phefs*18) in the IL10RB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the IL10RB protein. ClinVar contains an entry for this variant (Variation ID: 1038371). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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