Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002561119 | SCV001374324 | pathogenic | Familial adenomatous polyposis 1 | 2021-09-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 934724). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu68Tyrfs*2) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). |
| Ambry Genetics | RCV002418672 | SCV002720275 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-06-17 | criteria provided, single submitter | clinical testing | The c.203delT pathogenic mutation, located in coding exon 2 of the APC gene, results from a deletion of one nucleotide at nucleotide position 203, causing a translational frameshift with a predicted alternate stop codon (p.L68Yfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. However, alterations that result in premature termination in coding exon 2 are associated with an attenuated phenotype and may have reduced penetrance compared to classic familial adenomatous polyposis syndrome. Clinical correlation is advised. |
| Myriad Genetics, |
RCV002561119 | SCV004045567 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-25 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV002561119 | SCV004198225 | likely pathogenic | Familial adenomatous polyposis 1 | 2023-09-20 | criteria provided, single submitter | clinical testing |