ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.468T>G (p.Asp156Glu)

dbSNP: rs1597862508
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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 RCV001022902 SCV001184696 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-05 criteria provided, single submitter clinical testing The p.D156E variant (also known as c.468T>G), located in coding exon 5 of the RAD51D gene, results from a T to G substitution at nucleotide position 468. The aspartic acid at codon 156 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well 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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