Total submissions: 3
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, |
RCV003989757 | SCV004807937 | uncertain significance | Cholestasis, intrahepatic, of pregnancy, 3 | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |