Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001340449 | SCV001534258 | uncertain significance | not provided | 2022-01-15 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1037318). This missense change has been observed in individual(s) with clinical features of Usher syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2896 of the USH2A protein (p.Thr2896Ile). |
Natera, |
RCV001830424 | SCV002090809 | uncertain significance | Usher syndrome type 2A | 2021-08-13 | no assertion criteria provided | clinical testing |