Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001022637 | SCV001184397 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-05 | criteria provided, single submitter | clinical testing | The p.Y1508* pathogenic mutation (also known as c.4524C>A), located in coding exon 29 of the ATM gene, results from a C to A substitution at nucleotide position 4524. This changes the amino acid from a tyrosine to a stop codon within coding exon 29. 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 | RCV001862224 | SCV002196050 | pathogenic | Ataxia-telangiectasia syndrome | 2020-11-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1508*) 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). This variant is not present in population databases (ExAC no frequency). 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: 824972). |