ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1001G>A (p.Arg334Gln) (rs758303489)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667534 SCV000792003 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-02 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075062 SCV001240673 pathogenic Retinal dystrophy 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV001382060 SCV001580667 pathogenic not provided 2020-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 334 of the USH2A protein (p.Arg334Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs758303489, ExAC 0.009%). This variant has been observed in individual(s) with clinical features of Usher syndrome or retinitis pigmentosa (PMID: 17405132,29625443, 27344577, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552304). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.Arg334 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18452394, 10909849, 28894305, 19683999, 17405132, 15025721). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003286 SCV001161369 pathogenic Usher syndrome type 2 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.