ClinVar Miner

Submissions for variant NM_001127511.3(APC):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00003  dbSNP: rs189807660
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002231884 SCV000647314 uncertain significance Familial adenomatous polyposis 1 2023-10-26 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC protein. This variant is present in population databases (rs189807660, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 469802). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000764558 SCV000895646 uncertain significance Desmoid disease, hereditary; Carcinoma of colon; Familial adenomatous polyposis 1; Neoplasm of stomach; Hepatocellular carcinoma 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736809 SCV004562443 uncertain significance not provided 2023-09-08 criteria provided, single submitter clinical testing The APC c.1A>G; p.Met1? variant (rs189807660) in transcript NM_001127511.3, also known as c.-30226A>G in transcript NM_000038.6, is not reported in the medical literature, to our knowledge, but is reported in ClinVar (Variation ID: 469802). This variant is found in the general population with an overall allele frequency of 0.005% (8/166,732 alleles) in the Genome Aggregation Database. This variant abolishes a translation initiation site in an alternate transcript of APC; however, no variants in this codon or the canonical initiation codon in transcript NM_000038.6 have been reported in affected individuals. Due to limited information, the clinical significance of this variant is uncertain at this time.

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.