Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241675 | SCV001414708 | pathogenic | Ataxia-telangiectasia syndrome | 2021-03-13 | 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: 966891). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr2682Aspfs*6) 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). |
Ambry Genetics | RCV002418831 | SCV002680049 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-09-09 | criteria provided, single submitter | clinical testing | The c.8043dupG pathogenic mutation, located in coding exon 54 of the ATM gene, results from a duplication of G at nucleotide position 8043, causing a translational frameshift with a predicted alternate stop codon (p.T2682Dfs*6). 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. |