Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215491 | SCV000276661 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-06-28 | criteria provided, single submitter | clinical testing | The p.L1092R variant (also known as c.3275T>G), located in coding exon 21 of the RAD50 gene, results from a T to G substitution at nucleotide position 3275. The leucine at codon 1092 is replaced by arginine, an amino acid with dissimilar 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 6502 samples (13004 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be probably damaging yet tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.L1092R remains unclear. |