Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Myriad Genetics, |
RCV001354809 | SCV004045210 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Department of Pathology and Laboratory Medicine, |
RCV001354809 | SCV001549514 | pathogenic | Familial adenomatous polyposis 1 | no assertion criteria provided | clinical testing | The APC p.Gln1928ArgfsX42 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Clinvitae, Genesight-COGR, Cosmic, Zhejiang Colon Cancer Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The variant was identified in UMD-LSDB (as causal), and Insight Colon Cancer Gene Variant Database (1x). The p.Gln1928ArgfsX42 variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1928 and leads to a premature stop codon 42 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the APC gene are an established mechanism of disease in familial adenomatous polyposis and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. |