Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001022468 | SCV001184211 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | The p.Q1478* pathogenic mutation (also known as c.4432C>T), located in coding exon 28 of the ATM gene, results from a C to T substitution at nucleotide position 4432. This changes the amino acid from a glutamine to a stop codon within coding exon 28. This alteration has been reported in 1/192 Spanish hereditary breast and/or ovarian cancer families who were tested with a 97-gene panel (Bonache S et al. J Cancer Res Clin Oncol, 2018 Dec;144:2495-2513). In addition to the clinical data presented in the literature, 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. |
| Labcorp Genetics |
RCV000680217 | SCV002243092 | pathogenic | Ataxia-telangiectasia syndrome | 2023-06-28 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 561184). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 30306255). This sequence change creates a premature translational stop signal (p.Gln1478*) 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 | RCV003465548 | SCV004212067 | pathogenic | Familial cancer of breast | 2023-03-11 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003465548 | SCV004933235 | pathogenic | Familial cancer of breast | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
| Laboratory of Molecular Oncology, |
RCV000680217 | SCV000803660 | uncertain significance | Ataxia-telangiectasia syndrome | no assertion criteria provided | reference population |