ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2332A>C (p.Ile778Leu)

dbSNP: rs1554099107
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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 RCV001015211 SCV001176022 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-20 criteria provided, single submitter clinical testing The p.I778L variant (also known as c.2332A>C), located in coding exon 14 of the RAD50 gene, results from an A to C substitution at nucleotide position 2332. The isoleucine at codon 778 is replaced by leucine, an amino acid with highly 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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