Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000177233 | SCV000229075 | likely benign | not specified | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000177233 | SCV000577533 | uncertain significance | not specified | 2017-03-23 | criteria provided, single submitter | clinical testing | The D70N variant has been reported as heterozygous in three individuals with intrahepatic cholestasis of pregnancy,one individual with infantile intrahepatic cholestasis, and one individual with chronic pancreatitis (Mullenbach et al.,2005; van der Woerd et al., 2013; McKay et al., 2013). It was also reported in an individual with benign recurrentintrahepatic cholestasis who was compound heterozygous for a second missense variant in ATP8B1 (Klomp et al.,2004). However, functional studies suggest enzyme activity to be that of wild type (Folmer et al., 2009). The D70Nvariant is observed in 0.3-3% of alleles in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium etal., 2015; Exome Variant Server). The D70N variant is a semi-conservative amino acid substitution, which mayimpact secondary protein structure as these residues differ in some properties. This substitution occurs at a positionthat is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant isdamaging to the protein structure/function. Therefore, based on the currently available information, it is unclearwhether this variant is a pathogenic variant or a rare benign variant. |
Genomic Research Center, |
RCV000007694 | SCV000784325 | uncertain significance | Cholestasis of pregnancy | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000661994 | SCV000784326 | uncertain significance | Cholestasis, benign recurrent intrahepatic 1 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000661995 | SCV000784327 | uncertain significance | Progressive familial intrahepatic cholestasis 2 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000661996 | SCV000784328 | uncertain significance | Cholestasis, progressive familial intrahepatic 1 | 2018-03-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000952767 | SCV001099294 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000661996 | SCV001140913 | uncertain significance | Cholestasis, progressive familial intrahepatic 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000661996 | SCV001285582 | uncertain significance | Cholestasis, progressive familial intrahepatic 1 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Baylor Genetics | RCV000661994 | SCV001528420 | uncertain significance | Cholestasis, benign recurrent intrahepatic 1 | 2018-07-30 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
OMIM | RCV000007694 | SCV000027895 | pathogenic | Cholestasis of pregnancy | 2005-06-01 | no assertion criteria provided | literature only |