ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2122G>C (p.Ala708Pro)

dbSNP: rs1554098695
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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 RCV000572838 SCV000671812 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-28 criteria provided, single submitter clinical testing The p.A708P variant (also known as c.2122G>C), located in coding exon 13 of the RAD50 gene, results from a G to C substitution at nucleotide position 2122. The alanine at codon 708 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all 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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