ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.470A>C (p.Glu157Ala)

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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 RCV002335333 SCV002637626 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-01 criteria provided, single submitter clinical testing The p.E157A variant (also known as c.470A>C), located in coding exon 5 of the RAD51D gene, results from an A to C substitution at nucleotide position 470. The glutamic acid at codon 157 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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