Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156013 | SCV000205725 | uncertain significance | not specified | 2013-09-08 | criteria provided, single submitter | clinical testing | The Glu1918Lys variant in USH2A has not been reported in individuals with hearin g loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. In summary, additional da ta is needed to determine the clinical significance of this variant. |
Counsyl | RCV000666166 | SCV000790413 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2017-03-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001239118 | SCV001411968 | uncertain significance | not provided | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1918 of the USH2A protein (p.Glu1918Lys). This variant is present in population databases (rs529355834, gnomAD 0.04%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 25356976). ClinVar contains an entry for this variant (Variation ID: 179226). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
Genome- |
RCV003453185 | SCV004181767 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001835697 | SCV004181768 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835697 | SCV002091562 | uncertain significance | Usher syndrome type 2A | 2020-09-24 | no assertion criteria provided | clinical testing |