Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001927232 | SCV002158055 | uncertain significance | not provided | 2021-08-04 | 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. This variant has not been reported in the literature in individuals affected with WFS1-related conditions. This variant is present in population databases (rs756067305, ExAC 0.03%). This sequence change replaces leucine with proline at codon 481 of the WFS1 protein (p.Leu481Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
Fulgent Genetics, |
RCV005038455 | SCV005660246 | uncertain significance | Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome | 2024-05-31 | criteria provided, single submitter | clinical testing |