Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002261999 | SCV002542785 | uncertain significance | Autoinflammatory syndrome | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003095920 | SCV002969053 | uncertain significance | Familial hemophagocytic lymphohistiocytosis 2 | 2022-02-20 | 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: "Probably Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with familial hemophagocytic lymphohistiocytosis (PMID: 32638196). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 161 of the PRF1 protein (p.Lys161Glu). |