ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.371G>A (p.Trp124Ter)

dbSNP: rs1645261795
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 RCV001225731 SCV001398020 pathogenic Familial adenomatous polyposis 2 2022-10-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 953438). 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.Trp152*) 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).
Ambry Genetics RCV002339609 SCV002636025 pathogenic Hereditary cancer-predisposing syndrome 2021-12-06 criteria provided, single submitter clinical testing The p.W152* pathogenic mutation (also known as c.455G>A), located in coding exon 5 of the MUTYH gene, results from a G to A substitution at nucleotide position 455. This changes the amino acid from a tryptophan to a stop codon within coding exon 5. 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.

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.