Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024765 | SCV001186844 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-12-19 | criteria provided, single submitter | clinical testing | The c.5992_5993delGGinsTA pathogenic mutation (also known as p.G1998*), located in coding exon 39 of the ATM gene, results from an in-frame deletion of GG and insertion of TA at nucleotide positions 5992 to 5993. This changes the amino acid from a glycine to a stop codon within coding exon 39. 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. |