Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001234931 | SCV001407592 | pathogenic | Ataxia-telangiectasia syndrome | 2020-10-14 | 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.Tyr1229*) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV003373071 | SCV004086523 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-24 | criteria provided, single submitter | clinical testing | The p.Y1229* variant (also known as c.3687C>A), located in coding exon 24 of the ATM gene, results from a C to A substitution at nucleotide position 3687. This changes the amino acid from a tyrosine to a stop codon within coding exon 24. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |