ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.953A>G (p.Glu318Gly)

dbSNP: rs1597855377
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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 RCV001019470 SCV001180832 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing The p.E318G variant (also known as c.953A>G), located in coding exon 10 of the RAD51D gene, results from an A to G substitution at nucleotide position 953. The glutamic acid at codon 318 is replaced by glycine, an amino acid with similar properties. This amino acid position is not 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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