ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.209A>G (p.Asp70Gly)

dbSNP: rs876660173
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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 RCV000223079 SCV000277379 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-25 criteria provided, single submitter clinical testing The p.D70G variant (also known as c.209A>G), located in coding exon 3 of the RAD51D gene, results from an A to G substitution at nucleotide position 209. The aspartic acid at codon 70 is replaced by glycine, 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 RCV002515691 SCV003354347 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2022-12-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 70 of the RAD51D protein (p.Asp70Gly). 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: 233076). 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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