Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001014401 | SCV001175101 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-25 | criteria provided, single submitter | clinical testing | The p.L697* pathogenic mutation (also known as c.2090T>G), located in coding exon 12 of the ATM gene, results from a T to G substitution at nucleotide position 2090. This changes the amino acid from a leucine to a stop codon within coding exon 12. 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 | RCV001381934 | SCV001580510 | pathogenic | Ataxia-telangiectasia syndrome | 2020-05-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 820697). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu697*) in the ATM gene. It is expected to result in an absent or disrupted protein product. |