ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.388C>G (p.Gln130Glu)

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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 RCV002357387 SCV002620591 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-24 criteria provided, single submitter clinical testing The p.Q130E variant (also known as c.388C>G), located in coding exon 5 of the RAD51D gene, results from a C to G substitution at nucleotide position 388. The glutamine at codon 130 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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