Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000574663 | SCV000665446 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-16 | criteria provided, single submitter | clinical testing | The p.S2495F variant (also known as c.7484C>T), located in coding exon 49 of the ATM gene, results from a C to T substitution at nucleotide position 7484. The serine at codon 2495 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not 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. |
| Labcorp Genetics |
RCV000692282 | SCV000820096 | uncertain significance | Ataxia-telangiectasia syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 2495 of the ATM protein (p.Ser2495Phe). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with breast cancer (PMID: 34196900). ClinVar contains an entry for this variant (Variation ID: 481202). 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 tolerated. 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. |
| Baylor Genetics | RCV003465186 | SCV004210188 | uncertain significance | Familial cancer of breast | 2024-02-14 | criteria provided, single submitter | clinical testing |