Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV003584554 | SCV004362877 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-29 | criteria provided, single submitter | clinical testing | This missense variant replaces threonine with alanine at codon 1301 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Invitae | RCV000122776 | SCV000166033 | uncertain significance | Familial adenomatous polyposis 1 | 2014-06-11 | no assertion criteria provided | clinical testing | This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. This sequence change affects a highly conserved amino acid, although algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) return conflicting predictions. There is no evidence to indicate that this sequence change is pathogenic. It is possible that this sequence change represents a benign polymorphism in the APC gene, although at this time the evidence is insufficient to prove that conclusively. |