Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000663159 | SCV000786316 | uncertain significance | Fanconi anemia, complementation group J; Neoplasm of ovary | 2018-04-06 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000475043 | SCV000547311 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2018-09-26 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with tyrosine at codon 435 of the BRIP1 protein (p.His435Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 407833). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |