Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213922 | SCV001385578 | uncertain significance | not provided | 2022-02-04 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 183059). This missense change has been observed in individual(s) with familial exudative vitreoretinopathy (PMID: 27316669). This variant is present in population databases (rs547169524, gnomAD 0.1%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 617 of the ZNF408 protein (p.Thr617Asn). |
Hyderabad Eye Research Foundation, |
RCV000190412 | SCV000211861 | uncertain significance | Exudative vitreoretinopathy 1 | 2015-02-12 | no assertion criteria provided | research |