Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535882 | SCV000936125 | uncertain significance | Familial adenomatous polyposis 1 | 2023-04-22 | criteria provided, single submitter | clinical testing | 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: 643011). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1797 of the APC protein (p.Asn1797Ser). |
Ambry Genetics | RCV002345758 | SCV002643436 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-13 | criteria provided, single submitter | clinical testing | The p.N1797S variant (also known as c.5390A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 5390. The asparagine at codon 1797 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not 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. |
Preventiongenetics, |
RCV003396385 | SCV004111300 | uncertain significance | APC-related condition | 2023-01-11 | criteria provided, single submitter | clinical testing | The APC c.5390A>G variant is predicted to result in the amino acid substitution p.Asn1797Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 1 of ~250,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/5-112176681-A-G) and is interpreted as uncertain significance in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/643011/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |