Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025016 | SCV001187125 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-10-18 | criteria provided, single submitter | clinical testing | The p.L2071* variant (also known as c.6212T>A), located in coding exon 42 of the ATM gene, results from a T to A substitution at nucleotide position 6212. This changes the amino acid from a leucine to a stop codon within coding exon 42. 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. |