ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.772G>T (p.Gly258Trp)

dbSNP: rs181695922
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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 RCV001026763 SCV001189205 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-29 criteria provided, single submitter clinical testing The p.G258W variant (also known as c.772G>T), located in coding exon 9 of the RAD51D gene, results from a G to T substitution at nucleotide position 772. The glycine at codon 258 is replaced by tryptophan, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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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