ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) (rs797044517)

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
Counsyl RCV000671980 SCV000797029 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-01-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156304 SCV000206022 uncertain significance not specified 2014-01-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ile1158Val vari ant in MYO7A has not been previously reported in individuals with hearing loss. Data from large population studies is insufficient to assess the frequency of th is variant. Computational analyses (amino acid biochemical properties, conservat ion, AlignGVGD, PolyPhen2, SIFT) suggest that the Ile1158Val variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. In summary, the clinical significance of this variant cannot be det ermined with certainty; however based the computational data, we would lean towa rds a more likely benign role.

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.