Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000216867 | SCV000277254 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-07-17 | criteria provided, single submitter | clinical testing | The p.E390K variant (also known as c.1168G>A), located in coding exon 8 of the ATM gene, results from a G to A substitution at nucleotide position 1168. The glutamic acid at codon 390 is replaced by lysine, an amino acid with 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 6499 samples (12998 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 66000 alleles tested) in our clinical cohort. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be benign and deleterious by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of p.E390K remains unclear. |
| MGZ Medical Genetics Center | RCV002288881 | SCV002580212 | uncertain significance | Familial cancer of breast | 2021-09-17 | criteria provided, single submitter | clinical testing |