Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018569 | SCV001179823 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-30 | criteria provided, single submitter | clinical testing | The p.K1033* pathogenic mutation (also known as c.3097A>T), located in coding exon 20 of the ATM gene, results from an A to T substitution at nucleotide position 3097. This changes the amino acid from a lysine to a stop codon within coding exon 20. 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. |