Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017079 | SCV001178104 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-12 | criteria provided, single submitter | clinical testing | The p.E350* pathogenic mutation (also known as c.1048G>T), located in coding exon 9 of the NBN gene, results from a G to T substitution at nucleotide position 1048. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |