ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.931A>T (p.Ile311Phe)

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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 RCV003168149 SCV003855298 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-16 criteria provided, single submitter clinical testing The p.I311F variant (also known as c.931A>T), located in coding exon 10 of the RAD51D gene, results from an A to T substitution at nucleotide position 931. The isoleucine at codon 311 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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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