ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) (rs397516323)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675068 SCV000800545 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-06-02 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074201 SCV001239772 likely pathogenic Retinal dystrophy 2019-03-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036203 SCV000059855 likely pathogenic Rare genetic deafness 2010-08-16 no assertion criteria provided clinical testing The Leu1935Pro variant in MYO7A has not been reported in the literature. This re sidue is conserved across species and computational analyses (PolyPhen, SIFT) su ggest that the Leu1935Pro variant may impact the protein. This variant was detec ted in a patient in combination with a reported pathogenic variant increasing th e likelihood that the Leu1935Pro variant is pathogenic. 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.