The MYO7A gene has been associated with autosomal recessive Usher syndrome type 1 using the ClinGen Clinical Validity Framework as of 6/28/2018. This association was made using case-level data only. At least 9 variants (missense, nonsense, frameshift, splice-site) have been reported in humans. MYO7A was first associated with this disease in humans as early as 1995 (Weil et al.). Association is seen in at least 8 probands in 3 publications (23559863, 18181211, 25211151). More evidence is available in the literature, but the maximum score for genetic evidence and/or experimental evidence (12 pts.) has been reached. Of note, this gene has also been implicated in nonsyndromic hearing loss. This has been assessed separately. This gene-disease association is supported by relevant expression studies, protein interaction studies, and animal models that replicate the hearing loss phenotype. In summary, MYO7A is definitively associated with autosomal recessive Usher syndrome type 1.This classification was approved by the ClinGen Hearing Loss Working Group on 6/28/2018.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.