Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000222223 | SCV000277619 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-11 | criteria provided, single submitter | clinical testing | The p.I326T variant (also known as c.977T>C), located in coding exon 7 of the ATM gene, results from a T to C substitution at nucleotide position 977. The isoleucine at codon 326 is replaced by threonine, an amino acid with similar properties. This alteration has been reported in a cohort of 488 patients with stages I to III breast cancer who were tested with a 25-gene panel test (Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV000222223 | SCV000904869 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-12-12 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001038222 | SCV001201685 | uncertain significance | Ataxia-telangiectasia syndrome | 2023-05-13 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 233276). This missense change has been observed in individual(s) with breast cancer (PMID: 26976419). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 326 of the ATM protein (p.Ile326Thr). |
| Athena Diagnostics | RCV001658040 | SCV001879620 | uncertain significance | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003469071 | SCV004212152 | uncertain significance | Familial cancer of breast | 2022-12-10 | criteria provided, single submitter | clinical testing |