ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.668G>T (p.Gly223Val)

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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 RCV002367069 SCV002665907 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-03 criteria provided, single submitter clinical testing The p.G223V variant (also known as c.668G>T) is located in coding exon 8 of the RAD51D gene. The glycine at codon 223 is replaced by valine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 8. 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.

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