Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003350788 | SCV004053978 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-31 | criteria provided, single submitter | clinical testing | The c.1607+162A>G intronic variant results from an A to G substitution 162 nucleotides after coding exon 9 in the ATM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site and will result in the creation or strengthening of a novel splice acceptor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003777504 | SCV004686930 | pathogenic | Ataxia-telangiectasia syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 10 of the ATM gene. It does not directly change the encoded amino acid sequence of the ATM protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. 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. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV004572951 | SCV005057112 | uncertain significance | Familial cancer of breast | 2023-12-29 | criteria provided, single submitter | clinical testing |