Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001218452 | SCV001390334 | pathogenic | Ataxia-telangiectasia syndrome | 2019-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2828*) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002447098 | SCV002677622 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-04 | criteria provided, single submitter | clinical testing | The p.Q2828* pathogenic mutation (also known as c.8482C>T), located in coding exon 57 of the ATM gene, results from a C to T substitution at nucleotide position 8482. This changes the amino acid from a glutamine to a stop codon within coding exon 57. 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. |