Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220353 | SCV000272902 | uncertain significance | not specified | 2015-06-10 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ile3030Thr va riant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Isoleucine (Ile) at position 3030 is not conserved in some mammals and many evolutionarily distant species, w ith 5 fish species having a threonine (Thr) at this position. Computational pred iction tools do not provide strong support for or against an impact to the prote in. In summary, while the clinical significance of the p.Ile3030Thr variant is u ncertain, the lack of evolutionarily conservation suggests that it is more likel y to be benign. |
Counsyl | RCV000673847 | SCV000799095 | uncertain significance | Usher syndrome type 2A; Retinitis pigmentosa 39 | 2018-04-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002518230 | SCV002933736 | uncertain significance | not provided | 2022-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3030 of the USH2A protein (p.Ile3030Thr). This variant is not present in population databases (gnomAD no frequency). 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: 229629). 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. |
Genome- |
RCV003454609 | SCV004182743 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454608 | SCV004182744 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing |