Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002231168 | SCV001584947 | pathogenic | Familial adenomatous polyposis 1 | 2020-03-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 433601). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys153Argfs*17) in the APC gene. It is expected to result in an absent or disrupted protein product. |
| Myriad Genetics, |
RCV003337291 | SCV004044658 | pathogenic | Familial adenomatous polyposis 1 | 2023-04-26 | 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, |
RCV000503185 | SCV000591032 | pathogenic | Carcinoma of colon | no assertion criteria provided | clinical testing | The p.Lys153ArgfsX17 variant has not been identified in the literature but it represents an alteration which is expected to cause the disorder. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 153 and leads to a premature stop codon 17 codons downstream, leading to a truncated or absent protein. Loss of function of the APC gene is an established disease mechanism in familial adenomatous polyposis (FAP) syndrome. In summary, based on the information above this variant is Pathogenic. |