ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile) (rs181435872)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429551 SCV000535445 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing The V1038I variant of uncertain significance in the ATP7A gene has been reported as a novel variant in a Japanese individual with cancer; study authors hypothesized that genetic variants in ATP7A and ATP7B may influence efficacy/toxicity of platinum drugs used for cancer treatment (Fukushima-Uesaka et al., 2009). V1038I was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but was observed in a small percentage of alleles (0.05%), including two hemizygous males, from individuals of East Asian ancestry in the Exome Aggregation Consortium (ExAC). The V1038I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In addition, this substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species, and where I1038 is the native residue in multiple species. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this X-linked variant is pathogenic or rare benign. This result cannot be interpreted for diagnosis or used for family member screening at this time.
Invitae RCV001080223 SCV001107716 likely benign Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-12-31 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.