Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001941439 | SCV002224467 | uncertain significance | Cataract 18 | 2021-03-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with glutamic acid at codon 122 of the FYCO1 protein (p.Gln122Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs779617235, ExAC 0.006%). This variant has been observed in individual(s) with congenital cataracts (Invitae). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Ce |
RCV002264434 | SCV002544804 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing |