ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)

dbSNP: rs910086490
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
Counsyl RCV000674831 SCV000800232 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001230929 SCV001403429 pathogenic not provided 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3553 of the USH2A protein (p.Asp3553Asn). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Usher syndrome and/or retinitis pigmentosa (PMID: 24944099; internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 558542). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001230929 SCV003828076 uncertain significance not provided 2019-07-23 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.