ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11411del (p.Pro3804fs)

dbSNP: rs397517973
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041696 SCV000065392 pathogenic Rare genetic deafness 2012-01-16 criteria provided, single submitter clinical testing The p.Pro3804fs variant in USH2A has been previously reported in one individual and an affected family member with hearing loss by our laboratory, and was abse nt from large population studies. This variant is predicted to cause a frameshif t, which alters the protein's amino acid sequence beginning at codon 3804 and le ads to a premature stop 13 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the USH2A gene is an established disease mechanism in Usher syndrome. In summary, this variant m eets our criteria to be classified as pathogenic for autosomal recessive Usher s yndrome based on the predicted impact of the variant on the protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV001051639 SCV001215805 pathogenic not provided 2024-08-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro3804Leufs*13) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with USH2A-related conditions (PMID: 24944099, 28838317). ClinVar contains an entry for this variant (Variation ID: 48375). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074997 SCV001240607 pathogenic Retinal dystrophy 2017-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490580 SCV002796112 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2022-01-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000670912 SCV004182105 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001831699 SCV004182106 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670912 SCV004208249 pathogenic Retinitis pigmentosa 39 2023-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000670912 SCV000795827 pathogenic Retinitis pigmentosa 39 2017-11-19 no assertion criteria provided clinical testing
Natera, Inc. RCV001831699 SCV002088333 pathogenic Usher syndrome type 2A 2021-07-21 no assertion criteria provided 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.