ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.224T>G (p.Leu75Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002420228 SCV002725025 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-17 criteria provided, single submitter clinical testing The p.L75R variant (also known as c.224T>G), located in coding exon 3 of the RAD51D gene, results from a T to G substitution at nucleotide position 224. The leucine at codon 75 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004779340 SCV005390727 uncertain significance not provided 2024-04-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 14704354, 19327148)

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