ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer)

gnomAD frequency: 0.00001  dbSNP: rs1278603247
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
GeneDx RCV001008719 SCV001168500 pathogenic not provided 2019-07-08 criteria provided, single submitter clinical testing The c.6696delT variant has been reported previously in association with autosomal recessive hearing loss (Sloan-Heggen et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
Invitae RCV001008719 SCV001409030 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2233*) in the CDH23 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH23 are known to be pathogenic (PMID: 11138009, 21940737). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive non-syndromic hearing loss (PMID: 26969326). ClinVar contains an entry for this variant (Variation ID: 817561). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001008719 SCV003823093 likely pathogenic not provided 2022-02-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003473555 SCV004210628 pathogenic Pituitary adenoma 5, multiple types 2023-08-24 criteria provided, single submitter clinical testing

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.