Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003651945 | SCV000647184 | pathogenic | Familial adenomatous polyposis 1 | 2023-01-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 469712). This variant is also known as IVS11+1G>A. Disruption of this splice site has been observed in individual(s) with familial adenomatous polyposis or colorectal cancer (PMID: 11933206, 20685668, 25604157). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 12 of the APC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). |
| Baylor Genetics | RCV002526174 | SCV004199499 | pathogenic | Familial adenomatous polyposis 1 | 2023-10-09 | criteria provided, single submitter | clinical testing |