Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000548040 | SCV000633526 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-03-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 338 of the BRIP1 protein (p.Glu338Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with breast cancer (PMID: 26921362). ClinVar contains an entry for this variant (Variation ID: 461055). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
| Ambry Genetics | RCV000567478 | SCV000668891 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-01-21 | criteria provided, single submitter | clinical testing | In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence |
| Color | RCV000567478 | SCV000689240 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-17 | criteria provided, single submitter | clinical testing |