Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000275712 | SCV000342105 | likely pathogenic | not provided | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000275712 | SCV000951836 | pathogenic | not provided | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 570 of the ABCB11 protein (p.Ala570Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with ABCB11-related conditions (PMID: 15300568, 18395098, 26678486). ClinVar contains an entry for this variant (Variation ID: 288100). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ABCB11 function (PMID: 17855769, 17947449, 19101985). This variant disrupts the p.Ala570 amino acid residue in ABCB11. Other variant(s) that disrupt this residue have been observed in individuals with ABCB11-related conditions (PMID: 26678486), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000275712 | SCV002020420 | pathogenic | not provided | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003463770 | SCV004207732 | pathogenic | Benign recurrent intrahepatic cholestasis type 2 | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828248 | SCV002077900 | pathogenic | Progressive familial intrahepatic cholestasis type 2 | 2021-03-26 | no assertion criteria provided | clinical testing | |
Genomics And Bioinformatics Analysis Resource, |
RCV001828248 | SCV004024094 | pathogenic | Progressive familial intrahepatic cholestasis type 2 | no assertion criteria provided | research |