ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)

gnomAD frequency: 0.00006  dbSNP: rs370155266
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 RCV000041912 SCV000065608 uncertain significance not specified 2012-12-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asn2560Ser vari ant in USH2A has not been reported in the literature nor previously identified b y our laboratory. Computational analyses (biochemical amino acid properties, con servation, AlignGVGD, PolyPhen2, and SIFT) does not provide strong evidence for or against pathogenicity. This variant has been identified in 0.01% (1/8600) of European American chromosomes and 0.02% (1/4406) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.wash ington.edu/EVS/), however this frequency is not high enough to rule out pathogen icity. In summary, additional data is needed to determine the clinical significa nce of this variant.
Eurofins Ntd Llc (ga) RCV000723775 SCV000203772 uncertain significance not provided 2014-02-18 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196102 SCV001366573 uncertain significance Usher syndrome type 2A 2019-03-04 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Fulgent Genetics, Fulgent Genetics RCV002477135 SCV002776440 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000723775 SCV003454956 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2560 of the USH2A protein (p.Asn2560Ser). This variant is present in population databases (rs370155266, gnomAD 0.02%). 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: 48586). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV003450890 SCV004183213 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001196102 SCV004183215 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888407 SCV004707942 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001196102 SCV001458118 uncertain significance Usher syndrome type 2A 2020-09-16 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.