ClinVar Miner

Submissions for variant NC_000011.10:g.77207298G>A

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 RCV000825985 SCV000967473 uncertain significance not specified 2019-02-28 criteria provided, single submitter clinical testing The p.Val1918Met variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome, but a missense variant at the same positi on (p.Val1918Glu) has been reported in the homozygous state in a Uyghur individu al with profound sensorineural hearing loss and a consanguineous family history (Chen 2015). The p.Val1918Met variant has been identified in 0.001% (1/110230) o f European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computation al prediction tools and conservation analysis suggest that this variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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.