ClinVar Miner

Submissions for variant NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln)

gnomAD frequency: 0.00130  dbSNP: rs141223506
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
Invitae RCV000892936 SCV001036846 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000892936 SCV001468349 uncertain significance not provided 2021-12-08 criteria provided, single submitter clinical testing INO80 NM_017553.2 exon 32 p.Arg1281Gln (c.3842G>A): This variant has not been reported in the literature but is present in 0.1% (223/129174) of European alleles in the Genome Aggregation Database, including one homozygote (https://gnomad.broadinstitute.org/variant/15-41277615-C-T). This variant is present in ClinVar (Variation ID:719735). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore, the clinical significance of this variant is uncertain.

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.