ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.118G>A (p.Asp40Asn)

gnomAD frequency: 0.00002  dbSNP: rs143098658
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593455 SCV001816460 likely benign not provided 2019-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699433 SCV005203106 uncertain significance not specified 2024-07-09 criteria provided, single submitter clinical testing Variant summary: COCH c.118G>A (p.Asp40Asn) results in a conservative amino acid change located in the LCCL domain (IPR004043) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-05 in 251452 control chromosomes. The occurrence in several carriers suggests that this variant is likely not associated with a high penetrance, severe, early onset disease phenotype in heterozygous state. To our knowledge, no occurrence of c.118G>A in individuals affected with Hereditary hearing loss and deafness and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1214980). Based on the evidence outlined above, the variant was classified as uncertain significance.

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.