ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)

gnomAD frequency: 0.00002  dbSNP: rs876658116
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
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 RCV000220353 SCV000272902 uncertain significance not specified 2015-06-10 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile3030Thr va riant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Isoleucine (Ile) at position 3030 is not conserved in some mammals and many evolutionarily distant species, w ith 5 fish species having a threonine (Thr) at this position. Computational pred iction tools do not provide strong support for or against an impact to the prote in. In summary, while the clinical significance of the p.Ile3030Thr variant is u ncertain, the lack of evolutionarily conservation suggests that it is more likel y to be benign.
Counsyl RCV000673847 SCV000799095 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV002518230 SCV002933736 uncertain significance not provided 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3030 of the USH2A protein (p.Ile3030Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 229629). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV003454609 SCV004182743 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454608 SCV004182744 uncertain significance Usher syndrome type 2A 2023-11-04 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.