Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000486273 | SCV000572010 | uncertain significance | not provided | 2023-07-20 | criteria provided, single submitter | clinical testing | Observed in individual(s) with breast cancer (Tung et al., 2015); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21111057, 25186627) |
| Labcorp Genetics |
RCV000546552 | SCV000651743 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 13 of the RAD51D protein (p.Thr13Ile). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 422517). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 Diagnostics, |
RCV000773179 | SCV000906740 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-19 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000546552 | SCV001160332 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2019-02-23 | criteria provided, single submitter | clinical testing | The RAD51D c.38C>T; p.Thr13Ile variant (rs1064795830) is reported as uncertain in the ClinVar database (Variation ID: 422517). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The threonine at codon 13 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant may be deleterious. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time. |
| Ambry Genetics | RCV000773179 | SCV001182997 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-13 | criteria provided, single submitter | clinical testing | The p.T13I variant (also known as c.38C>T), located in coding exon 1 of the RAD51D gene, results from a C to T substitution at nucleotide position 38. The threonine at codon 13 is replaced by isoleucine, an amino acid with similar properties. This variant was observed in an individual with breast cancer amongst a cohort of 1781 non-Ashkenazi Jewish individuals undergoing BRCA1/2 gene testing based on a personal history of breast cancer (Tung N et al. Cancer, 2015 Jan;121:25-33). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Sema4, |
RCV000773179 | SCV002534809 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-01 | criteria provided, single submitter | curation | |
| Baylor Genetics | RCV000546552 | SCV005054038 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-11-30 | criteria provided, single submitter | clinical testing |