Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001851713 | SCV002229358 | pathogenic | not provided | 2023-02-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 6589). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with progressive familial intrahepatic cholestasis (PMID: 9806540). This sequence change creates a premature translational stop signal (p.Arg575*) 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 (rs72549401, gnomAD 0.03%). |
Baylor Genetics | RCV003472992 | SCV004213143 | pathogenic | Benign recurrent intrahepatic cholestasis type 2 | 2023-09-11 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000006967 | SCV000027163 | pathogenic | Progressive familial intrahepatic cholestasis type 2 | 1998-11-01 | no assertion criteria provided | literature only |