Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014848 | SCV001175611 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-18 | criteria provided, single submitter | clinical testing | The p.Y741* pathogenic mutation (also known as c.2223T>A), located in coding exon 13 of the ATM gene, results from a T to A substitution at nucleotide position 2223. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. 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. |