ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6126C>G (p.Tyr2042Ter)

dbSNP: rs1957844295
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001389906 SCV001591429 pathogenic not provided 2020-10-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053). This variant has not been reported in the literature in individuals with MYO7A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr2042*) in the MYO7A gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005005243 SCV005629488 pathogenic Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 2024-01-17 criteria provided, single submitter clinical testing
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital RCV001823206 SCV001763620 pathogenic Autosomal recessive nonsyndromic hearing loss 2 no assertion criteria provided case-control

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.