Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041925 | SCV000065621 | likely benign | not specified | 2016-02-18 | criteria provided, single submitter | clinical testing | p.Phe2786Ser in exon 42 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (59/16506) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs111033262). |
Invitae | RCV000937134 | SCV001082909 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000937134 | SCV001765443 | likely benign | not provided | 2018-09-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 30245029, 20507924, 25262649) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000041925 | SCV002104146 | benign | not specified | 2022-02-26 | criteria provided, single submitter | clinical testing | Variant summary: USH2A c.8357T>C (p.Phe2786Ser) results in a non-conservative amino acid change located in the Fibronectin type III domain (IPR003961) of 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 0.00083 in 251116 control chromosomes in the gnomAD database, including 2 homozygotes. Although reported in the literature, to our knowledge, no penetrant association of c.8357T>C in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Genome- |
RCV003450900 | SCV004182812 | likely benign | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001276968 | SCV004182813 | likely benign | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003934974 | SCV004755463 | likely benign | USH2A-related condition | 2020-12-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001276968 | SCV001463661 | likely benign | Usher syndrome type 2A | 2020-02-13 | no assertion criteria provided | clinical testing |