Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041881 | SCV000065577 | benign | not specified | 2012-05-14 | criteria provided, single submitter | clinical testing | Lys2080Asn in Exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (41/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs114402911). As expected, this variant has b een reported in equal frequencies in cases and controls (Booij 2010, Clark 2010, Dreyer 2008, McGee 2010). |
ARUP Laboratories, |
RCV000755431 | SCV000605548 | benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000041881 | SCV000704138 | benign | not specified | 2017-01-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000755431 | SCV001097411 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986532 | SCV001135549 | benign | Usher syndrome type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000755431 | SCV001941371 | benign | not provided | 2018-12-20 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25412400, 18273898) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041881 | SCV002500243 | benign | not specified | 2022-03-08 | criteria provided, single submitter | clinical testing | Variant summary: USH2A c.6240G>T (p.Lys2080Asn) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0056 in 251140 control chromosomes, predominantly at a frequency of 0.01 within the African or African-American subpopulation in the gnomAD database, including 3 homozygotes. This frequency is almost close to that estimated for a pathogenic variant in USH2A causing Usher Syndrome (0.0056 vs 0.011), supporting a benign outcome. To our knowledge, no penetrant association of c.6240G>T in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and a predominant consensus as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Ce |
RCV000755431 | SCV004125613 | likely benign | not provided | 2024-08-01 | criteria provided, single submitter | clinical testing | USH2A: BP4, BS2 |
Genome- |
RCV003450868 | SCV004181686 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000986532 | SCV004181687 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000755431 | SCV005280582 | benign | not provided | criteria provided, single submitter | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000504996 | SCV000598819 | uncertain significance | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research | |
Natera, |
RCV000986532 | SCV001462250 | benign | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV000041881 | SCV001925587 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000041881 | SCV001951978 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000755431 | SCV001974903 | likely benign | not provided | no assertion criteria provided | clinical testing |