Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592973 | SCV000707926 | uncertain significance | not provided | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000592973 | SCV003008346 | uncertain significance | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 501529). This variant has not been reported in the literature in individuals affected with ABCB4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 260 of the ABCB4 protein (p.Leu260Pro). |
Baylor Genetics | RCV003333082 | SCV004041246 | uncertain significance | Cholestasis, intrahepatic, of pregnancy, 3 | 2023-06-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003333081 | SCV004041508 | uncertain significance | Progressive familial intrahepatic cholestasis type 3 | 2023-06-07 | criteria provided, single submitter | clinical testing |