ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.329G>A (p.Gly110Asp) (rs587780103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115813 SCV000149722 uncertain significance not provided 2014-01-21 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.329G>A at the cDNA level, p.Gly110Asp (G110D) at the protein level, and results in the change of a Glycine to an Aspartic Acid (GGT>GAT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D Gly110Asp was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative substitution in which a neutral non-polar amino acid is replaced with a negative polar one, altering a position that is well conserved throughout evolution and is located within a Nucleotide-binding domain via UniProt. Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. Based on the currently available information, we consider RAD51D Gly110Asp to be a variant of uncertain significance. Furthermore,
Ambry Genetics RCV000572133 SCV000663851 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-01 criteria provided, single submitter clinical testing Insufficient evidence

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