Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732592 | SCV000860566 | pathogenic | not provided | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987917 | SCV001137410 | pathogenic | Progressive familial intrahepatic cholestasis type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV003447558 | SCV004175670 | pathogenic | Low phospholipid associated cholelithiasis | 2021-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732592 | SCV004294484 | pathogenic | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 596680). This premature translational stop signal has been observed in individual(s) with progressive familial intrahepatic cholestasis type 3 and low-phospholipid-associated cholelithiasis (PMID: 17726488, 23533021, 34961929). This variant is present in population databases (rs377160065, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg159*) in the ABCB4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCB4 are known to be pathogenic (PMID: 17726488, 25755532). |
NIHR Bioresource Rare Diseases, |
RCV001003563 | SCV001161924 | likely pathogenic | Cholestasis, intrahepatic, of pregnancy, 3 | no assertion criteria provided | research |