ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)

dbSNP: rs74315437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000005124 SCV002521193 pathogenic Autosomal recessive nonsyndromic hearing loss 29 2022-05-22 criteria provided, single submitter clinical testing The variant was co-segregated with Deafness, autosomal recessive 29 in multiple affected family members with additional meioses meeting strong evidence levels (PMID: 11163249). In silico prediction tools and conservation analysis predicted that this variant was probably damaging to the protein structure/function (REVEL: 0.947>=0.6, 3CNET: 0.755>=0.75). A missense variant is a common mechanism associated with Deafness, autosomal recessive 29. It has been reported with an extremely low frequency in the gnomAD v2.1.1 (https://gnomad.broadinstitute.org/) dataset. Amino acid change identical to known pathogenic variant has been previously reported with supporting evidence (ClinVar ID: VCV000004851, PMID:11163249). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000005124 SCV000025301 pathogenic Autosomal recessive nonsyndromic hearing loss 29 2012-02-01 no assertion criteria provided literature only
Laboratory of Molecular Genetics, National Institutes of Health RCV000417186 SCV000494728 pathogenic Hearing impairment 2016-08-30 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291511 SCV001480017 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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.