Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002512861 | SCV003524807 | pathogenic | not provided | 2022-03-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1257Glyfs*40) in the ABCB11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the ABCB11 protein. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ABCB11 protein in which other variant(s) (p.Glu1302*) have been determined to be pathogenic (PMID: 18395098, 31015375). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 6592). This variant is also known as 3767‚àí3768 ins C. This premature translational stop signal has been observed in individual(s) with progressive familial intrahepatic cholestasis (PMID: 9806540). |
OMIM | RCV000032591 | SCV000056342 | pathogenic | Progressive familial intrahepatic cholestasis type 2 | 1998-11-01 | no assertion criteria provided | literature only |