ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.11T>C (p.Leu4Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003644222 SCV004450835 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-09-17 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 4 of the RAD51D protein (p.Leu4Pro).
Ambry Genetics RCV004943180 SCV005485302 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-16 criteria provided, single submitter clinical testing The p.L4P variant (also known as c.11T>C), located in coding exon 1 of the RAD51D gene, results from a T to C substitution at nucleotide position 11. The leucine at codon 4 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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