ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)

gnomAD frequency: 0.00001  dbSNP: rs768257384
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626937 SCV000747640 likely pathogenic Congenital sensorineural hearing impairment 2017-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784186 SCV002017686 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2019-12-26 criteria provided, single submitter clinical testing
GeneDx RCV003317302 SCV004021758 likely pathogenic not provided 2023-01-24 criteria provided, single submitter clinical testing Observed with a second MYO15A variant in a patient with profound congenital hearing loss in the published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Baux et al., 2017); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31589614, 29196752)

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.