Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Molecular Medicine, |
RCV001030031 | SCV001190549 | pathogenic | Inflammatory bowel disease 28 | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001030031 | SCV001378746 | pathogenic | Inflammatory bowel disease 28 | 2022-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in an 18bp deletion or exon 4 skipping (PMID: 26822028). ClinVar contains an entry for this variant (Variation ID: 830051). This variant has been observed in individual(s) with Inflammatory bowel disease (PMID: 26822028, 28267044, 29140941). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change affects codon 179 of the IL10RA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IL10RA protein. This variant also falls at the last nucleotide of exon 4, which is part of the consensus splice site for this exon. |
Beijing Key Laboratry for Genetics of Birth Defects, |
RCV001030031 | SCV001739465 | likely pathogenic | Inflammatory bowel disease 28 | 2020-02-28 | criteria provided, single submitter | clinical testing | |
Diagnostic Genetics, |
RCV001030031 | SCV003837567 | pathogenic | Inflammatory bowel disease 28 | 2023-01-03 | criteria provided, single submitter | clinical testing |