ClinVar Miner

Submissions for variant NM_000053.3(ATP7B):c.3305T>C (p.Ile1102Thr) (rs560952220)

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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000495835 SCV000583503 likely pathogenic Wilson disease no assertion criteria provided clinical testing The observed mutation is reported in 1000 genomes and ExAC databases. Its dbSNP reference number is rs560952220. The in silico prediction of the observed mutation is disease-causing by Mutationtaster2 and probably damaging by PolyPhen2 and SIFT. The proband, born of a non consanguinous union was clinically diagnosed to be affected with Wilson's disease. Upon investigation it was found that the proband had c.3305T>C (p.I1102T) mutation in exon 15 of ATP7B gene. His parents were further investigated for the same mutation and were found to be heterozyous for the same by Sanger sequencing. Also during subsequent pregnancy the fetus was found to be heterozygous for the same mutation.
Integrated Genetics/Laboratory Corporation of America RCV000495835 SCV000694443 pathogenic Wilson disease 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.3305T>C (p.Ile1102Thr) variant located in the ATP loop (Luoma_2010) involves the alteration of a conserved nucleotide that 4/4 in silico tools predict a damaging outcome for this variant. A functional study, Luoma_2010, does indicate the variant inhibits normal ATP7B protein function. This variant was found in 1/120752 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic ATP7B variant (0.0054006). Multiple publications cite the variant in affected homozygote and compound heterozygote individuals. In addition, multiple reputable databases cite the variant as "pathogenic." Taken together, this variant is classified as pathogenic.

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.