Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000482851 | SCV000571299 | uncertain significance | not provided | 2016-08-12 | criteria provided, single submitter | clinical testing | This variant is denoted APC c.835-4T>G or IVS8-4T>G and consists of a T>G nucleotide substitution at the -4 position of intron 8 of the APC gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In silico models are inconclusive with respect to splicing, and in the absence of RNA or functional studies, the actual effect of this variant is unknown. APC c.835-4T>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The thymine (T) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether APC c.835-4T>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Labcorp Genetics |
RCV004564186 | SCV000647769 | likely benign | Familial adenomatous polyposis 1 | 2024-07-29 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000776476 | SCV000912030 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-09 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the -4 position of intron 8 of the APC gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has been identified in 7/282368 chromosomes 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. |
| Ambry Genetics | RCV000776476 | SCV001178701 | benign | Hereditary cancer-predisposing syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Sema4, |
RCV000776476 | SCV002531726 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-03 | criteria provided, single submitter | curation | |
| Center for Human Genetics, |
RCV000659271 | SCV000781067 | likely pathogenic | Familial multiple polyposis syndrome | 2016-11-01 | flagged submission | clinical testing |