ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.173+2T>G

dbSNP: rs2123561272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377497 SCV001574840 likely pathogenic Inflammatory bowel disease 25 2022-10-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1066486). 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 affects a donor splice site in intron 2 of the IL10RB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IL10RB are known to be pathogenic (PMID: 22549091).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001377497 SCV001976859 pathogenic Inflammatory bowel disease 25 2021-10-05 criteria provided, single submitter clinical testing PVS1, PM2, PP3, PP5

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