ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)

gnomAD frequency: 0.00001  dbSNP: rs1444056772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249217 SCV002517496 pathogenic Low phospholipid associated cholelithiasis 2022-05-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989757 SCV004807937 uncertain significance Cholestasis, intrahepatic, of pregnancy, 3 2024-03-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004757533 SCV005355453 pathogenic ABCB4-related disorder 2024-04-26 no assertion criteria provided clinical testing The ABCB4 c.1744C>T variant is predicted to result in the amino acid substitution p.Arg582Trp. This variant was reported in both the biallelic and monoallelic state in individuals with ABCB4 deficiency (Schatz et al. 2018. PubMed ID: 29761167; Chen et al. 2018. PubMed ID: 30366773; Huynh et al. 2019. PubMed ID: 31538484). This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. An alternate nucleotide change affecting the same amino acid (p.Arg582Gln) has been reported in individuals with cholestatic liver disease (Fang et al. 2012. PubMed ID: 22343912; Huynh et al. 2019. PubMed ID: 31538484; Lipiński et al. 2020. PubMed ID: 32793533). This variant is interpreted as pathogenic.

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