Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488278 | SCV000575259 | pathogenic | not provided | 2021-01-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000488278 | SCV000857479 | pathogenic | not provided | 2017-10-13 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003476175 | SCV004213289 | pathogenic | Benign recurrent intrahepatic cholestasis type 2 | 2023-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000488278 | SCV004641931 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu656Alafs*9) in the ABCB11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCB11 are known to be pathogenic (PMID: 18395098, 20232290). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with clinical features of ABCB11-related condition (PMID: 29625052, 34016879). ClinVar contains an entry for this variant (Variation ID: 425233). |