ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.239C>T (p.Ala80Val)

dbSNP: rs876658332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217595 SCV000273413 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-02 criteria provided, single submitter clinical testing The p.A80V variant (also known as c.239C>T), located in coding exon 3 of the RAD51D gene, results from a C to T substitution at nucleotide position 239. The alanine at codon 80 is replaced by valine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000811147 SCV000951398 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-08-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 80 of the RAD51D protein (p.Ala80Val). This variant is not present in population databases (gnomAD no frequency). 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: 230011). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD51D protein function with a negative predictive value of 80%. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000811147 SCV003921002 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-03-14 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP, PP3

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