Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544869 | SCV000644895 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 2 | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with serine at codon 306 of the PRF1 protein (p.Gly306Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs763002067, ExAC 0.006%). This missense change has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 17606450, 22249210, 25233452, 26739415). 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. |
Genome Diagnostics Laboratory, |
RCV002261113 | SCV002542806 | likely pathogenic | Autoinflammatory syndrome | 2017-01-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003476294 | SCV004204201 | likely pathogenic | Aplastic anemia | 2023-08-24 | criteria provided, single submitter | clinical testing |