ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1214del (p.Asn405fs)

dbSNP: rs750228923
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
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 RCV000169682 SCV000221220 pathogenic Usher syndrome type 2A 2014-01-20 criteria provided, single submitter clinical testing The Asn405fs variant in USH2A has been reported in at least 5 individuals with Usher syndrome type II, including one homozygote and 3 compound heterozygotes (Bernal 2005; Schwartz 2005; Sandberg 2008, Garcia-Garcia 2011). This frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 405 and lead to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. This variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Counsyl RCV000664558 SCV000788542 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001039128 SCV001202640 pathogenic not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn405Ilefs*3) 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 present in population databases (rs750228923, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 15671307, 25404053). ClinVar contains an entry for this variant (Variation ID: 189250). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001075757 SCV001241387 pathogenic Retinal dystrophy 2019-06-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454428 SCV004182902 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000169682 SCV004182903 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003454428 SCV004208224 pathogenic Retinitis pigmentosa 39 2024-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169682 SCV002093995 pathogenic Usher syndrome type 2A 2020-07-30 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.