Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001215201 | SCV001386931 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 556 of the USH2A protein (p.Tyr556His). 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: 944734). 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. 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. |
Breakthrough Genomics, |
RCV001215201 | SCV005186262 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Natera, |
RCV001828713 | SCV002093976 | uncertain significance | Usher syndrome type 2A | 2020-01-17 | no assertion criteria provided | clinical testing |