Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001235366 | SCV001408048 | pathogenic | Ataxia-telangiectasia syndrome | 2024-05-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr741*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 961636). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002430007 | SCV002727523 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-08-25 | criteria provided, single submitter | clinical testing | The p.Y741* pathogenic mutation (also known as c.2223T>G), located in coding exon 13 of the ATM gene, results from a T to G substitution at nucleotide position 2223. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. 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, |
RCV004033279 | SCV004931201 | pathogenic | Familial cancer of breast | 2023-12-12 | 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. |
| Center for Genomic Medicine, |
RCV005232199 | SCV005872596 | likely pathogenic | not provided | 2025-03-04 | criteria provided, single submitter | clinical testing |