Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031137 | SCV001194443 | likely pathogenic | Familial adenomatous polyposis 1 | 2020-01-13 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 2-4 of the APC gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has been observed in an individual affected with clinical features of familial adenomatous polyposis (Invitae). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Invitae | RCV001862441 | SCV002272685 | likely pathogenic | Familial adenomatous polyposis 1 | 2021-06-28 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 2-4 of the APC gene, but not involving promoter 1A and 1B. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has been observed in an individual affected with clinical features of familial adenomatous polyposis (Invitae). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |