Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001851714 | SCV002256645 | likely pathogenic | not provided | 2021-11-03 | 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. Experimental studies have shown that this missense change affects ABCB11 function (PMID: 16039748, 24711118). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCB11 protein function. ClinVar contains an entry for this variant (Variation ID: 6595). This missense change has been observed in individual(s) with ABCB11-related conditions (PMID: 16039748, 19101985). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 432 of the ABCB11 protein (p.Arg432Thr). |
| OMIM | RCV000006974 | SCV000027170 | pathogenic | Benign recurrent intrahepatic cholestasis type 2 | 2005-09-01 | no assertion criteria provided | literature only |