Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048855 | SCV001212880 | uncertain significance | not provided | 2022-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1529 of the USH2A protein (p.Lys1529Asn). This variant is present in population databases (rs756423843, gnomAD 0.03%). 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: 845734). 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. |
Gene |
RCV001048855 | SCV001750732 | likely benign | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003363075 | SCV004083343 | uncertain significance | Inborn genetic diseases | 2023-08-08 | criteria provided, single submitter | clinical testing | The c.4587A>C (p.K1529N) alteration is located in exon 21 (coding exon 20) of the USH2A gene. This alteration results from a A to C substitution at nucleotide position 4587, causing the lysine (K) at amino acid position 1529 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001273054 | SCV001455641 | uncertain significance | Usher syndrome type 2A | 2020-01-24 | no assertion criteria provided | clinical testing |