ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys)

dbSNP: rs1288328459
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089567 SCV001244802 likely pathogenic Autosomal recessive nonsyndromic hearing loss 3 2018-07-31 criteria provided, single submitter clinical testing A heterozygous missense variant, NM_016239.3(MYO15A):c.8162C>A, has been identified in exon 45 of 66 of the MYO15A gene. The variant is predicted to result in a moderate amino acid change from threonine to lysine at position 2721 of the protein (NP_057323.3(MYO15A):p.(Thr2721Lys)). The threonine residue at this position has moderate conservation (100 vertebrates, UCSC), and is not located within any domains. In silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G), and has not been previously reported in clinical cases. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC.NB: This variant has been reclassified as likely pathogenic. The presence of these two variants in transconfirms acompound heterozygous mode of inheritance which is consistent with autosomal recessive deafness.

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.