Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002016567 | SCV002306301 | uncertain significance | not provided | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 963 of the IMPG2 protein (p.Ser963Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with inherited retinal dystrophies (PMID: 31736247). ClinVar contains an entry for this variant (Variation ID: 1509063). 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. |
Fulgent Genetics, |
RCV002479762 | SCV002792549 | uncertain significance | Retinitis pigmentosa 56; Vitelliform macular dystrophy 5 | 2021-09-22 | criteria provided, single submitter | clinical testing |