Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023061 | SCV001184877 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-21 | criteria provided, single submitter | clinical testing | The p.S1599* pathogenic mutation (also known as c.4796C>G), located in coding exon 31 of the ATM gene, results from a C to G substitution at nucleotide position 4796. This changes the amino acid from a serine to a stop codon within coding exon 31. 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. |