ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)

dbSNP: rs1553125677
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000640364 SCV000761953 pathogenic Familial adenomatous polyposis 2 2023-08-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 533306). This sequence change creates a premature translational stop signal (p.Trp427Serfs*22) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 27978560). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV003352961 SCV004055766 pathogenic Hereditary cancer-predisposing syndrome 2023-09-02 criteria provided, single submitter clinical testing The c.1280_1289del10 pathogenic mutation, located in coding exon 13 of the MUTYH gene, results from a deletion of 10 nucleotides at nucleotide positions 1280 to 1289, causing a translational frameshift with a predicted alternate stop codon (p.W427Sfs*22). This alteration has been previously identified in an individual from a North American cohort of individuals with early onset colon cancer (Pearlman R et al. JAMA Oncol, 2017 Apr;3:464-471). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV000640364 SCV004199437 likely pathogenic Familial adenomatous polyposis 2 2021-10-19 criteria provided, single submitter clinical testing

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.