ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.359G>A (p.Arg120His) (rs369493667)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036118 SCV000059770 uncertain significance not specified 2010-09-27 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg120His varia nt in MYO7A has not been reported in the literature nor previously identified by our laboratory. This residue is conserved in mammals though not in lower specie s. Computational analyses (PolyPhen, SIFT, AlignGVGD) provide inconsistent predi ctions regarding the impact to the protein though this information is not very p redictive of pathogenicity anyway. In summary, the clinical significance of this variant cannot be determined at this time.

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.