ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.470+1G>A (rs797044510)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154316 SCV000203978 pathogenic Rare genetic deafness 2014-08-19 criteria provided, single submitter clinical testing The 470+1G>A variant in MYO7A has been reported in the homozygous state in one i ndividual with Usher syndrome and segregated with disease in one affected siblin g (Adato 1997). It has not been identified in large population studies. This var iant occurs in the invariant region (+/- 1/2) of the splice consensus sequence a nd is predicted to cause altered splicing leading to an abnormal or absent prote in. In summary, this variant meets our criteria to be classified as pathogenic (
Counsyl RCV000666967 SCV000791346 pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-05-10 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV001028034 SCV001190800 pathogenic Usher syndrome type 1 2020-02-05 no assertion criteria provided clinical testing

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.