Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000567948 | SCV000675885 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-15 | criteria provided, single submitter | clinical testing | The p.T619N variant (also known as c.1856C>A), located in coding exon 14 of the APC gene, results from a C to A substitution at nucleotide position 1856. The threonine at codon 619 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003652041 | SCV001540293 | uncertain significance | Familial adenomatous polyposis 1 | 2021-08-23 | criteria provided, single submitter | clinical testing | 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 486745). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 619 of the APC protein (p.Thr619Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. 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 | RCV002529006 | SCV004204575 | uncertain significance | Familial adenomatous polyposis 1 | 2023-06-30 | criteria provided, single submitter | clinical testing |