ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.913del (p.Leu305fs)

dbSNP: rs1393567447
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228251 SCV001400641 pathogenic not provided 2023-03-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955581). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 25468891). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu305Cysfs*8) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298910 SCV002598940 likely pathogenic Usher syndrome 2022-09-12 criteria provided, single submitter clinical testing Variant summary: CDH23 c.913delC (p.Leu305CysfsX8) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncating variants downstream of this variant have been associated with Usher syndrome in HGMD. The variant allele was found at a frequency of 4e-06 in 249214 control chromosomes. c.913delC has been reported in the literature as a complex heterozygote in at least one individual with clinically diagnosed Usher Syndrome (Bujakowska_2014). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV003473795 SCV004212349 likely pathogenic Pituitary adenoma 5, multiple types 2022-12-08 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.