Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000056841 | SCV002147364 | uncertain significance | not provided | 2021-12-02 | criteria provided, single submitter | clinical testing | This missense change has been observed in individuals with Alexander disease (PMID: 21165639; Invitae). 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 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"). ClinVar contains an entry for this variant (Variation ID: 66447). 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 383 of the GFAP protein (p.Thr383Ile). |
| Epithelial Biology; Institute of Medical Biology, |
RCV000056841 | SCV000087954 | not provided | not provided | no assertion provided | not provided | ||
| Gene |
RCV000192178 | SCV000223044 | not provided | Alexander disease | no assertion provided | literature only |