ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1549-19T>G

dbSNP: rs2149812994
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003772698 SCV002167284 likely pathogenic Familial adenomatous polyposis 1 2022-05-13 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of familial adenomatous polyposis (Invitae). Studies have shown that this variant results in skipping of exon 13, but is expected to preserve the integrity of the reading-frame (Invitae). Other variant(s) that result in the loss of exon 13 have been determined to be pathogenic (PMID: 24599579, 33670833; Invitae). This suggests that this variant may also be clinically significant and likely to be disease-causing. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 of the APC gene. It does not directly change the encoded amino acid sequence of the APC protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.