ClinVar Miner

Submissions for variant NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) (rs34719006)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177233 SCV000229075 likely benign not specified 2017-04-26 criteria provided, single submitter clinical testing
GeneDx 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,Shahid Beheshti University of Medical Sciences RCV000007694 SCV000784325 uncertain significance Cholestasis of pregnancy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661994 SCV000784326 uncertain significance Cholestasis, benign recurrent intrahepatic 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661995 SCV000784327 uncertain significance Progressive familial intrahepatic cholestasis 2 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000661996 SCV000784328 uncertain significance Progressive intrahepatic cholestasis 2018-03-05 criteria provided, single submitter clinical testing
OMIM RCV000007694 SCV000027895 pathogenic Cholestasis of pregnancy 2005-06-01 no assertion criteria provided literature only

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