ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1097T>C (p.Leu366Pro) (rs397516281)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036037 SCV000059689 likely pathogenic Rare genetic deafness 2012-07-26 criteria provided, single submitter clinical testing The Leu366Pro variant in MYO7A has been reported in trans with likely pathogenic MYO7A variants in two probands with Usher syndrome type I (Jaijo 2007; LMM unpu blished data). In addition, it was absent from >8,000 European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project ( In summary, this variant is likely pathogenic, though add itional studies are required to fully establish its clinical significance.
Counsyl RCV000666645 SCV000790973 likely pathogenic Deafness, autosomal recessive 2; Usher syndrome type 1 2017-04-18 criteria provided, single submitter 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.