ClinVar Miner

Submissions for variant NM_001348946.2(ABCB1):c.3547C>T (p.Arg1183Cys)

dbSNP: rs199676098
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV002282429 SCV002570302 uncertain significance Inflammatory bowel disease 13 2022-02-13 criteria provided, single submitter clinical testing This ABCB1 variant (rs199676098) is rare (<0.1%) in a large population dataset (gnomAD: 3/251376 total alleles; 0.001%; no homozygotes) and has an entry in ClinVar. It is reported to have an effect on opiate metabolism, but is not among the variants associated with IBD13. Three bioinformatic tools queried predict that this substitution would be damaging, and the arginine residue at this position is evolutionarily conserved across most vertebrate species assessed. This variant is not predicted to affect normal exon 28 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.3547C>T to be uncertain at this time.
Bruce Budowle Laboratory, University of North Texas Health Science Center RCV001028686 SCV001191472 drug response Tramadol response 2018-04-28 no assertion criteria provided research

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