Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000562593 | SCV000667788 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-27 | criteria provided, single submitter | clinical testing | The p.N32Y variant (also known as c.94A>T), located in coding exon 1 of the APC gene, results from an A to T substitution at nucleotide position 94. The asparagine at codon 32 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is well 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 | RCV003652026 | SCV001384915 | uncertain significance | Familial adenomatous polyposis 1 | 2022-12-03 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 32 of the APC protein (p.Asn32Tyr). This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. ClinVar contains an entry for this variant (Variation ID: 482511). This variant has not been reported in the literature in individuals affected with APC-related conditions. |