ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2219G>C (p.Arg740Pro)

dbSNP: rs782276748
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
GeneDx RCV000478341 SCV000565298 likely pathogenic not provided 2013-04-17 criteria provided, single submitter clinical testing The R740P missense change in the MYO7A gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The R740P amino acid substitution is non-conservative with a positively charged and polar residue (Arg) being replaced by a neutral and non-polar residue (Pro). Furthermore, the addition of a Proline residue with its unique structure may affect the structure of the protein. The residue at which this substitution occurs is well conserved in the myosin VIIA protein. The R740P variant was not observed in approximately 6,300 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Therefore, R740P is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be excluded.

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.