Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001316668 | SCV001507299 | uncertain significance | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 5115 of the USH2A protein (p.Ile5115Val). This variant is present in population databases (rs753175395, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1017509). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A 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 | RCV002543701 | SCV003717462 | uncertain significance | Inborn genetic diseases | 2021-10-12 | criteria provided, single submitter | clinical testing | The c.15343A>G (p.I5115V) alteration is located in exon 71 (coding exon 70) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 15343, causing the isoleucine (I) at amino acid position 5115 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV001316668 | SCV004014180 | uncertain significance | not provided | 2023-09-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV003449905 | SCV004183225 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449904 | SCV004183236 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |