Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221966 | SCV000272888 | uncertain significance | not specified | 2015-03-02 | criteria provided, single submitter | clinical testing | The p.Arg4187Leu variant in USH2A has not been previously reported in individual s with hearing loss. This variant has been identified in 1/11530 Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147304271. Although this variant has been seen in the general populatio n, its frequency is not high enough to rule out a pathogenic role. Computationa l prediction tools and conservation analyses do not provide strong support for o r against an impact to the protein. In summary, the clinical significance of the p.Arg4187Leu variant is uncertain. |
Invitae | RCV001857754 | SCV002118285 | uncertain significance | not provided | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 4187 of the USH2A protein (p.Arg4187Leu). This variant is present in population databases (rs147304271, gnomAD 0.006%). 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: 229618). 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- |
RCV003454602 | SCV004181983 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001833218 | SCV004181984 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833218 | SCV002088300 | uncertain significance | Usher syndrome type 2A | 2019-11-11 | no assertion criteria provided | clinical testing |