Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002482836 | SCV002789073 | likely pathogenic | Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 | 2021-08-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003555949 | SCV004292640 | pathogenic | not provided | 2023-06-20 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the ABCB11 gene. It does not directly change the encoded amino acid sequence of the ABCB11 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with progressive familial intrahepatic cholestasis (PMID: 16039748, 27114171, 28733223). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 6593). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 27114171). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000006972 | SCV000027168 | pathogenic | Progressive familial intrahepatic cholestasis type 2 | 2005-09-01 | no assertion criteria provided | literature only |