Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221196 | SCV000269953 | benign | not specified | 2015-02-20 | criteria provided, single submitter | clinical testing | c.9259-14A>C in intron 46 of USH2A: This variant is not expected to have clinica l significance because it has been identified in 0.7% (109/16498) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs561590242), and a cytosine "C" at this position does not diverg e from the 3' splice site consensus sequence. |
Invitae | RCV001509798 | SCV001716673 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001509798 | SCV002031131 | likely benign | not provided | 2021-06-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000221196 | SCV002819548 | likely benign | not specified | 2022-12-14 | criteria provided, single submitter | clinical testing | Variant summary: USH2A c.9259-14A>C alters a non-conserved nucleotide located near a canonical splice site and therefore could affect mRNA splicing. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00075 in 251180 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than estimated for a pathogenic variant in USH2A causing Usher Syndrome (0.00075 vs 0.011), however the presence of a homozygous individual is supportive of the benign nature of the variant. To our knowledge, no occurrence of c.9259-14A>C in individuals affected with Usher Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Three 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 likely benign. |
Genome- |
RCV003445698 | SCV004172041 | benign | Retinitis pigmentosa 39 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445697 | SCV004172042 | benign | Usher syndrome type 2A | 2023-04-11 | criteria provided, single submitter | clinical testing |