Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000571047 | SCV000676338 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-21 | criteria provided, single submitter | clinical testing | The c.1467dupT pathogenic mutation, located in coding exon 9 of the ATM gene, results from a duplication of T at nucleotide position 1467, causing a translational frameshift with a predicted alternate stop codon (p.I490Yfs*9). 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 | RCV001382938 | SCV001581898 | pathogenic | Ataxia-telangiectasia syndrome | 2021-04-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 487030). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile490Tyrfs*9) 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, |
RCV004024580 | SCV004933921 | pathogenic | Familial cancer of breast | 2024-01-16 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |