Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003653400 | SCV000964184 | uncertain significance | Familial adenomatous polyposis 1 | 2023-08-04 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 665118). 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 46 of the APC protein (p.Glu46Asp). |
Ambry Genetics | RCV002390706 | SCV002699069 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-10 | criteria provided, single submitter | clinical testing | The p.E46D variant (also known as c.138A>C), located in coding exon 2 of the APC gene, results from an A to C substitution at nucleotide position 138. The glutamic acid at codon 46 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, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |