Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591821 | SCV000704037 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476297 | SCV002789602 | uncertain significance | Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 | 2022-05-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000591821 | SCV003519560 | likely benign | not provided | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003117361 | SCV003800946 | uncertain significance | not specified | 2023-01-24 | criteria provided, single submitter | clinical testing | Variant summary: ABCB11 c.2783G>A (p.Arg928Gln) results in a conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 248692 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2783G>A has been reported in the literature in at least one individual affected with intrahepatic cholestasis without strong evidence for causality (e.g., Liu_2013, Li_2015). These reports do not provide unequivocal conclusions about association of the variant with Familial Intrahepatic Cholestasis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters (evaluation after 2014) have cited the variant, and both laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Prevention |
RCV003900319 | SCV004718008 | uncertain significance | ABCB11-related disorder | 2023-12-07 | criteria provided, single submitter | clinical testing | The ABCB11 c.2783G>A variant is predicted to result in the amino acid substitution p.Arg928Gln. This variant was reported in an individual with Transient neonatal cholestasis (Liu et al 2013. PubMed ID: 23279303). This variant is reported in 0.046% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |