Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003767031 | SCV000647532 | uncertain significance | Familial adenomatous polyposis 1 | 2017-01-15 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with histidine at codon 1568 of the APC protein (p.Asp1568His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
Prevention |
RCV003392396 | SCV004121539 | uncertain significance | APC-related condition | 2022-10-04 | criteria provided, single submitter | clinical testing | The APC c.4702G>C variant is predicted to result in the amino acid substitution p.Asp1568His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been documented as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/469976/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |