ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) (rs74085882)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000244000 SCV000602605 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000029368 SCV000190071 uncertain significance Wilson disease 2014-06-01 no assertion criteria provided research
GeneDx RCV000244000 SCV000524982 benign not specified 2017-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000244000 SCV000694437 benign not specified 2017-07-06 criteria provided, single submitter clinical testing Variant summary: The c.3101A>G (p.His1034Arg) in ATP7B gene is a missense change that involves a conserved nucleotide and 3/5 in silico tools predict benign outcome. The variant is present in the control population dataset of ExAC at frequency of 0.0012 (141/118116 chrs tested), predominantly in individuals of African descent (0.0143; 133/9302 chrs, including 3 homozygotes). The observed frequency exceeds the maximum expected allele frequency for a pathogenic variant in this gene (0.0054), suggesting that it is an ethnic benign polymorphism. The variant of interest has not, to our knowledge, been identified in affected individuals via published reports, but is cited as Benign/Likely Benign by reputable database/clinical laboratories. Taking together, based on the prevalence in general population the variant was classified as Benign.
Invitae RCV000029368 SCV000752273 benign Wilson disease 2017-11-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244000 SCV000301715 benign not specified criteria provided, single submitter clinical testing

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