Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001010091 | SCV001170239 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-22 | criteria provided, single submitter | clinical testing | The p.E390* pathogenic mutation (also known as c.1168G>T), located in coding exon 8 of the ATM gene, results from a G to T substitution at nucleotide position 1168. This changes the amino acid from a glutamic acid to a stop codon within coding exon 8. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Invitae | RCV001860625 | SCV002238603 | pathogenic | Ataxia-telangiectasia syndrome | 2021-07-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818476). This variant has not been reported in the literature in individuals affected 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.Glu390*) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
| Myriad Genetics, |
RCV003141930 | SCV003806539 | pathogenic | Familial cancer of breast | 2023-01-13 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |