ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.403G>T (p.Val135Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002321196 SCV002631823 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-11 criteria provided, single submitter clinical testing The p.V135L variant (also known as c.403G>T), located in coding exon 5 of the RAD51D gene, results from a G to T substitution at nucleotide position 403. The valine at codon 135 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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