Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000562861 | SCV000676311 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | The p.N22D variant (also known as c.64A>G), located in coding exon 1 of the APC gene, results from an A to G substitution at nucleotide position 64. The asparagine at codon 22 is replaced by aspartic acid, an amino acid with highly 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758737 | SCV000887541 | uncertain significance | not provided | 2018-01-02 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003652047 | SCV001383428 | uncertain significance | Familial adenomatous polyposis 1 | 2022-08-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 487008). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 22 of the APC protein (p.Asn22Asp). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. |