Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001216483 | SCV001388283 | pathogenic | Ataxia-telangiectasia syndrome | 2019-05-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu243Phefs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002379818 | SCV002672921 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-03-08 | criteria provided, single submitter | clinical testing | The c.729_741del13 pathogenic mutation, located in coding exon 6 of the ATM gene, results from a deletion of the nucleotides GGCTGTCAACTTT at nucleotide positions 729 to 741, causing a translational frameshift with a predicted alternate stop codon (p.L243Ffs*8). 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. |