Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000164991 | SCV000215685 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-05-11 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
| Invitae | RCV000164991 | SCV000262064 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-05 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with isoleucine at codon 683 of the RAD50 protein (p.Val683Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs367925756, ExAC 0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 24894818). ClinVar contains an entry for this variant (Variation ID: 185548). 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 tolerated, 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. |
| Fulgent Genetics, |
RCV000764583 | SCV000895674 | uncertain significance | Nijmegen breakage syndrome-like disorder | 2018-10-31 | criteria provided, single submitter | clinical testing |