Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041919 | SCV000065615 | uncertain significance | not specified | 2010-09-02 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Gly2707Glu vari ant in USH2A has not been reported in the literature. We have identified it in o ne Hispanic patient without a variant on the second USH2A allele and who also ha d a single pathogenic GJB2 mutation. The Gly270 residue is conserved across spec ies and computational analyses (PolyPhen, SIFT, AlignGVGD) suggest that the Gly2 707Glu variant may impact the protein. However, this information is not predicti ve enough to assume pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time. |
Counsyl | RCV000666401 | SCV000790687 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-04-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002513606 | SCV003450578 | uncertain significance | not provided | 2022-05-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2707 of the USH2A protein (p.Gly2707Glu). This variant is present in population databases (rs397518034, gnomAD 0.003%). 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: 48593). 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- |
RCV003450897 | SCV004182843 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001274237 | SCV004182844 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274237 | SCV001458114 | uncertain significance | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |