Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002517322 | SCV002190858 | uncertain significance | Familial adenomatous polyposis 1 | 2021-11-08 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 82 of the APC protein (p.Phe82Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 217950). 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. |
Ambry Genetics | RCV002444819 | SCV002732752 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-19 | criteria provided, single submitter | clinical testing | The p.F82I variant (also known as c.244T>A), located in coding exon 3 of the APC gene, results from a T to A substitution at nucleotide position 244. The phenylalanine at codon 82 is replaced by isoleucine, 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. |
Mayo Clinic Laboratories, |
RCV000201969 | SCV000256949 | uncertain significance | not specified | no assertion criteria provided | research |