Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV000583884 | SCV000691302 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-05 | criteria provided, single submitter | clinical testing | This missense variant replaces leucine with phenylalanine at codon 4 of the RAD51D protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with RAD51D-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV000583884 | SCV002742802 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | The p.L4F variant (also known as c.10C>T), located in coding exon 1 of the RAD51D gene, results from a C to T substitution at nucleotide position 10. The leucine at codon 4 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003459449 | SCV004208075 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-12-19 | criteria provided, single submitter | clinical testing |