ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.196G>T (p.Val66Leu) (rs56026142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484401 SCV000567624 uncertain significance not provided 2015-08-14 criteria provided, single submitter clinical testing This variant is denoted RAD51D c.196G>T at the cDNA level, p.Val66Leu (V66L) at the protein level, and results in the change of a Valine to a Leucine (GTG>TTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51D Val66Leu 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. Since Valine and Leucine share similar properties, this is considered a conservative amino acid substitution. RAD51D Val66Leu occurs at a position that is not conserved and is located in the N-terminal linker domain and within the region that preferentially binds ssDNA (Kim 2011, UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether RAD51D Val66Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.

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