ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) (rs61733684)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145259 SCV000192322 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145259 SCV000301699 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000145259 SCV000345552 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000145259 SCV000525442 likely benign not specified 2018-01-03 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.
Invitae RCV000588095 SCV000626838 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588095 SCV000694416 likely benign not provided 2016-11-17 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.2175G>A (p.Arg725Arg) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, however, it may remove a cryptic 5' splicing donor site. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 434/132502 control chromosomes (2 homozygotes) and observed in the European (Finnish) subpopulation at highest frequency of 0.006199 (41/6614). This frequency is slightly higher than the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006), suggesting this is possibly a benign polymorphism found in the populations of European (Finnish) origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588095 SCV001150658 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing

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