ClinVar Miner

Submissions for variant NM_000038.6(APC):c.595dup (p.Ala199fs)

dbSNP: rs878853459
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232568 SCV000282788 pathogenic Familial adenomatous polyposis 1 2016-01-06 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 6 of the APC mRNA (c.595dupG), causing a frameshift at codon 199. This creates a premature translational stop signal (p.Ala199Glyfs*53) and is expected to result in an absent or disrupted protein product. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with familial adenomatous polyposis (FAP) with extracolonic phenotypes (PMID: 9067764). This variant is also referred to in the literature as 595insG. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV003535631 SCV002152382 pathogenic Familial adenomatous polyposis 1 2016-01-06 criteria provided, single submitter clinical testing Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in an individual affected with familial adenomatous polyposis (FAP) with extracolonic phenotypes (PMID: 9067764). This variant is also referred to in the literature as 595insG. For these reasons, this variant has been classified as Pathogenic. This sequence change inserts 1 nucleotide in exon 6 of the APC mRNA (c.595dupG), causing a frameshift at codon 199. This creates a premature translational stop signal (p.Ala199Glyfs*53) and is expected to result in an absent or disrupted 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.