Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000041887 | SCV000065583 | likely benign | not specified | 2011-01-07 | criteria provided, single submitter | clinical testing | Gln2162Gln in exon 34 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue. This variant occurs in the first base of the exon, which is part of the splice consensus sequence; h owever, computational analyses do not predict an alteration of splicing function . |
| Counsyl | RCV000664951 | SCV000788994 | likely benign | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2016-12-23 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV002513604 | SCV003445921 | uncertain significance | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | This sequence change affects codon 2162 of the USH2A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the USH2A protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs397518025, gnomAD no frequency). 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: 48561). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |