Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |