ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) (rs781537330)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216251 SCV000272154 uncertain significance not specified 2015-08-18 criteria provided, single submitter clinical testing The p.Arg1749Gln variant in MYO7A has not been previously reported in individual s with hearing loss. Data from large population studies are insufficient to asse ss the frequency of this variant. Computational prediction tools and conservatio n analysis do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Arg1749Gln variant is uncertain .
Counsyl RCV000666572 SCV000790882 uncertain significance Deafness, autosomal recessive 2; Usher syndrome type 1 2017-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765018 SCV000896202 uncertain significance Deafness, autosomal dominant 11; Deafness, autosomal recessive 2; Usher syndrome type 1 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272810 SCV001455176 uncertain significance Usher syndrome, type 1B 2020-01-24 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.