Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001043840 | SCV001207607 | uncertain significance | not provided | 2022-07-10 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1687 of the USH2A protein (p.Ile1687Leu). This variant is present in population databases (rs144213699, gnomAD 0.004%). 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: 841585). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Ambry Genetics | RCV003372952 | SCV004084993 | uncertain significance | Inborn genetic diseases | 2023-07-27 | criteria provided, single submitter | clinical testing | The c.5059A>C (p.I1687L) alteration is located in exon 25 (coding exon 24) of the USH2A gene. This alteration results from a A to C substitution at nucleotide position 5059, causing the isoleucine (I) at amino acid position 1687 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003455179 | SCV004181852 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001832417 | SCV004181853 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832417 | SCV002091579 | uncertain significance | Usher syndrome type 2A | 2021-02-08 | no assertion criteria provided | clinical testing |