ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.220G>C (p.Glu74Gln)

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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 RCV003168150 SCV003855306 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-23 criteria provided, single submitter clinical testing The p.E74Q variant (also known as c.220G>C), located in coding exon 3 of the RAD51D gene, results from a G to C substitution at nucleotide position 220. The glutamic acid at codon 74 is replaced by glutamine, an amino acid with highly similar 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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