Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001228896 | SCV001401322 | pathogenic | Ataxia-telangiectasia syndrome | 2019-07-24 | 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.Gln1331*) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002356979 | SCV002622482 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-09-11 | criteria provided, single submitter | clinical testing | The p.Q1331* pathogenic mutation (also known as c.3991C>T), located in coding exon 25 of the ATM gene, results from a C to T substitution at nucleotide position 3991. This changes the amino acid from a glutamine to a stop codon within coding exon 25. 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. |
| Laboratory for Genotyping Development, |
RCV003166393 | SCV002758092 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |