ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)

gnomAD frequency: 0.00003  dbSNP: rs886043807
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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, Revvity 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, Inc. RCV001828248 SCV002077900 pathogenic Progressive familial intrahepatic cholestasis type 2 2021-03-26 no assertion criteria provided clinical testing
Genomics And Bioinformatics Analysis Resource, Columbia University RCV001828248 SCV004024094 pathogenic Progressive familial intrahepatic cholestasis type 2 no assertion criteria provided research

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