Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129034 | SCV000172944 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-11 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence |
Invitae | RCV000552582 | SCV000650025 | uncertain significance | Fanconi anemia, complementation group O | 2019-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 27 of the RAD51C protein (p.Leu27Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ovarian cancer (PMID: 26261251). ClinVar contains an entry for this variant (Variation ID: 140837). 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"). 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. |
Color | RCV000129034 | SCV000686391 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-10-08 | criteria provided, single submitter | clinical testing |