Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001023192 | SCV001185030 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-20 | criteria provided, single submitter | clinical testing | The p.Q163* pathogenic mutation (also known as c.487C>T), located in coding exon 4 of the ATM gene, results from a C to T substitution at nucleotide position 487. This changes the amino acid from a glutamine to a stop codon within coding exon 4. 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 | RCV001042999 | SCV001206709 | pathogenic | Ataxia-telangiectasia syndrome | 2021-03-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in an individual affected with ataxia-telangiectasia (PMID: 10980530). ClinVar contains an entry for this variant (Variation ID: 825252). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln163*) 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). |
| Baylor Genetics | RCV003467674 | SCV004210214 | pathogenic | Familial cancer of breast | 2023-07-01 | criteria provided, single submitter | clinical testing |