ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) (rs397516324)

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 RCV000036211 SCV000059863 likely pathogenic Rare genetic deafness 2011-09-17 criteria provided, single submitter clinical testing The Leu196Pro variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory in any other families. This residue is conser ved across species and computational analyses (PolyPhen2, SIFT) suggest that the Leu196Pro variant may impact the protein. In addition, genetic testing of this individual?s parents revealed that this variant occurs in trans with the Gly214A rg variant in this individual, increasing the likelihood that this is the second pathogenic variant responsible for this individual?s symptoms. In summary, this variant is likely to be 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.