ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3517A>G (p.Asn1173Asp)

dbSNP: rs764069770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593939 SCV000702229 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593939 SCV005744198 uncertain significance not provided 2024-09-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1173 of the ABCB11 protein (p.Asn1173Asp). This variant is present in population databases (rs764069770, gnomAD 0.003%). This missense change has been observed in individual(s) with ABCB11-related conditions (PMID: 22795478). ClinVar contains an entry for this variant (Variation ID: 497615). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCB11 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003403386 SCV004103482 uncertain significance ABCB11-related disorder 2024-07-29 no assertion criteria provided clinical testing The ABCB11 c.3517A>G variant is predicted to result in the amino acid substitution p.Asn1173Asp. This variant has been reported in the homozygous state and in the heterozygous state along with a second ABCB11 variant in two unrelated individuals with progressive familial intrahepatic cholestasis (Table 1, Kubitz et al. 2012. PubMed ID: 22795478; Table S2, Dröge et al. 2017. PubMed ID: 28733223; Table 1, Jeyaraj et al. 2021. PubMed ID: 34828443). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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