Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000806145 | SCV000946127 | pathogenic | Ataxia-telangiectasia syndrome | 2018-09-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr2791*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This nonsense change has been reported in combination with another pathogenic ATM variant in an individual affected with ataxia telangiectasia (PMID: 9792409). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
| Ambry Genetics | RCV003353038 | SCV004053995 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | The p.Y2791* pathogenic mutation (also known as c.8373C>G), located in coding exon 56 of the ATM gene, results from a C to G substitution at nucleotide position 8373. This changes the amino acid from a tyrosine to a stop codon within coding exon 56. 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. |
| Myriad Genetics, |
RCV004028236 | SCV004932012 | pathogenic | Familial cancer of breast | 2024-02-02 | 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. |