Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473004 | SCV000553952 | uncertain significance | BAP1-related tumor predisposition syndrome | 2018-09-12 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine with arginine at codon 676 of the BAP1 protein (p.Cys676Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BAP1-related disease. ClinVar contains an entry for this variant (Variation ID: 412426). This variant is not present in population databases (ExAC no frequency). |