Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595866 | SCV000709640 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Genetics and Molecular Pathology, |
RCV003447543 | SCV004175282 | likely pathogenic | Progressive familial intrahepatic cholestasis type 3 | 2022-11-23 | criteria provided, single submitter | clinical testing | The ABCB4 c.2318G>T variant is classified as Likely Pathogenic (PS4_Supporting, PM2, PM5, PP3) The ABCB4 c.2318G>T variant is a single nucleotide change in exon 19/28 of the ABCB4 gene, which is predicted to change the amino acid glycine at position 773 in the protein to valine. The variant has been reported in 2 probands with a clinical presentation of cholelithiasis (Jirsa et al 2014, PMID:24914347; Hertel et al 2021, PMID:34016879) (PS4_Supporting). This variant is absent from population databases (PM2). This variant is located in the conserved ABC transporter transmembrane region (PM1). This variant is a missense change at an amino acid residue where the missense change p.Gly773Arg has been reported as disease-causing before (Davit-Spraul et al, 2010; PMID:20422496) (PM5). Computational predictions support a deleterious effect on the gene or gene product (PP3). The variant has been reported in dbSNP (rs1554401811) and in the HGMD database: CM147042. It has been reported as Uncertain significance by other diagnostic laboratories (ClinVar Variation ID: 502777). |