Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732890 | SCV000860888 | pathogenic | not provided | 2018-04-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732890 | SCV001408610 | pathogenic | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys930Glufs*79) 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 (rs752919965, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with progressive familial intrahepatic cholestasis 2 (PMID: 16039748, 26678486). This variant is also known as K930X and c.2787_2788insGAGAT. ClinVar contains an entry for this variant (Variation ID: 6594). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000732890 | SCV004035424 | pathogenic | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24115678, 16039748, 26678486, 28733223, 29625052, 27368585, 34016879) |
Baylor Genetics | RCV003460430 | SCV004214834 | pathogenic | Benign recurrent intrahepatic cholestasis type 2 | 2023-03-16 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000006973 | SCV000027169 | pathogenic | Progressive familial intrahepatic cholestasis type 2 | 2005-09-01 | no assertion criteria provided | literature only |