ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.617A>T (p.Asp206Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353750 SCV002654995 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-15 criteria provided, single submitter clinical testing The p.D206V variant (also known as c.617A>T), located in coding exon 7 of the RAD51D gene, results from an A to T substitution at nucleotide position 617. The aspartic acid at codon 206 is replaced by valine, an amino acid with highly dissimilar properties. Based on internal structural assessment, this alteration disrupts the conserved ATP-binding site (Brouwer I et al. EMBO J, 2018 04;37:). This amino acid position is well 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 RCV003528376 SCV004296208 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-07-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 206 of the RAD51D protein (p.Asp206Val). 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: 1752043). 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 expected to disrupt RAD51D protein function with a positive 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.

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