ClinVar Miner

Submissions for variant NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)

dbSNP: rs1558811557
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
Tehran Medical Genetics Laboratory RCV000735808 SCV000853079 likely pathogenic Achromatopsia 2 2018-09-26 criteria provided, single submitter clinical testing The c.130_151dup p.(Ala51Valfs*16) creates a shift in the reading frame starting at codon 51. The new reading frame ends in a stop codon 15 positions downstream. This variant has been confirmed by Sanger sequencing and it is classified as likely pathogenic (class 2) according to the recommendations of Centogene and ACMG.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002959 SCV001161002 pathogenic Achromatopsia 2019-06-23 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.