Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rolfs Rare Disease Consulting, |
RCV003485521 | SCV004232493 | pathogenic | Progressive familial intrahepatic cholestasis type 3 | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003556020 | SCV004294485 | pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 13696). This premature translational stop signal has been observed in individual(s) with ABCB4-related conditions (PMID: 12624161, 26153658). This variant is present in population databases (rs72552780, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg144*) in the ABCB4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCB4 are known to be pathogenic (PMID: 17726488, 25755532). |
OMIM | RCV000014695 | SCV000034950 | pathogenic | Cholestasis, intrahepatic, of pregnancy, 3 | 2009-10-01 | no assertion criteria provided | literature only |