ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003103161 SCV003301588 pathogenic Familial adenomatous polyposis 2 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this premature translational stop signal results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 1801675). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp131*) in the MUTYH gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and may result in an absent or disrupted protein product.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003103161 SCV003842976 uncertain significance Familial adenomatous polyposis 2 2022-12-28 criteria provided, single submitter clinical testing The MUTYH c.392G>A (p.Trp131Ter) change is a nonsense variant that is predicted to cause premature protein truncation and loss of normal protein function. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 23035301). This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). This variant has been reported in an individual undergoing hereditary cancer panel or colorectal cancer testing (PMID: 24763289). It is unknown if the individual harbored biallelic MUTYH variants. In summary, this variant meets criteria to be classified as pathogenic.
Baylor Genetics RCV003103161 SCV004198971 likely pathogenic Familial adenomatous polyposis 2 2023-04-14 criteria provided, single submitter clinical testing
Laboratory for Genotyping Development, RIKEN RCV003164711 SCV002758522 pathogenic Gastric cancer 2021-07-01 no assertion criteria provided research

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.