Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733103 | SCV000861122 | uncertain significance | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000733103 | SCV002173627 | uncertain significance | not provided | 2021-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 1084 of the ABCB4 protein (p.Arg1084Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with low-phospholipid-associated cholelithiasis syndrome (PMID: 23533021, 32893960). ClinVar contains an entry for this variant (Variation ID: 597086). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Prevention |
RCV004535866 | SCV004117583 | uncertain significance | ABCB4-related disorder | 2023-12-08 | criteria provided, single submitter | clinical testing | The ABCB4 c.3250C>T variant is predicted to result in the amino acid substitution p.Arg1084Trp. This variant has been reported in several individuals with low phospholipid-associated cholelithiasis (LPAC) (Poupon et al 2013. PubMed ID: 23533021; Supplementary appendix, de Vries E et al 2020. PubMed ID: 32893960). This variant has not been reported in a large population database, indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |