ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.505G>A (p.Val169Met)

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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 RCV002335784 SCV002644058 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-18 criteria provided, single submitter clinical testing The p.V169M variant (also known as c.505G>A), located in coding exon 6 of the RAD51D gene, results from a G to A substitution at nucleotide position 505. The valine at codon 169 is replaced by methionine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV005096728 SCV005795589 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 169 of the RAD51D protein (p.Val169Met). 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: 1745092). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAD51D protein function. 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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