Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000574121 | SCV000660594 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | The p.Y1763C variant (also known as c.5288A>G), located in coding exon 34 of the ATM gene, results from an A to G substitution at nucleotide position 5288. The tyrosine at codon 1763 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001237989 | SCV001410783 | uncertain significance | Ataxia-telangiectasia syndrome | 2021-11-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1763 of the ATM protein (p.Tyr1763Cys). ClinVar contains an entry for this variant (Variation ID: 478975). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). |