ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg)

dbSNP: rs1567649779
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756403 SCV000884205 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2018-10-15 criteria provided, single submitter clinical testing The p.Cys2184Arg variant has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been previously identified in our laboratory. It is also absent from population databases such as 1000 Genomes, the NHLBI GO Exome Sequencing Project (ESP), and the Genome Aggregation Database (gnomAD) browser. The cysteine at codon 2184 is highly conserved considering 11 species up to Cow (Alamut software v2.9), and computational analyses suggest this variant has a significant effect on MYO15A protein structure/function (SIFT: damaging, PolyPhen2: damaging, and Mutation Taster: disease causing). However, based on the available information, the clinical significance of the p.Cys2184Arg variant cannot be determined with certainty.

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.