ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1545C>A (p.Asp515Glu)

dbSNP: rs876659699
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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 RCV000221064 SCV000277768 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing The p.D515E variant (also known as c.1545C>A), located in coding exon 10 of the RAD50 gene, results from a C to A substitution at nucleotide position 1545. The aspartic acid at codon 515 is replaced by glutamic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 65000 alleles tested) in our clinical cohort. 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 p.D515E remains unclear.

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