ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.791T>C (p.Leu264Pro)

dbSNP: rs1567724947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776403 SCV000911884 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803205 SCV000943067 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 264 of the RAD51D protein (p.Leu264Pro). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 630555). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions.
Ambry Genetics RCV000776403 SCV001189436 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-17 criteria provided, single submitter clinical testing The p.L264P variant (also known as c.791T>C), located in coding exon 9 of the RAD51D gene, results from a T to C substitution at nucleotide position 791. The leucine at codon 264 is replaced by proline, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
MGZ Medical Genetics Center RCV000803205 SCV002581731 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-08-01 criteria provided, single submitter clinical testing

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