ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) (rs376790729)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234544 SCV000285928 pathogenic MYH-associated polyposis 2020-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu479*) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with adenomatous polyposis (PMID: 17949294). This variant is also known as c.1393G>T, p.Glu465Ter in the literature. ClinVar contains an entry for this variant (Variation ID: 238337). Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000487112 SCV000568575 likely pathogenic not provided 2018-11-27 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.1435G>T at the cDNA level and p.Glu479Ter (E479X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic.
Ambry Genetics RCV000571910 SCV000666453 pathogenic Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing The p.E479* pathogenic mutation (also known as c.1435G>T), located in coding exon 14 of the MUTYH gene, results from a G to T substitution at nucleotide position 1435. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. 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.
Color Health, Inc RCV000571910 SCV000685577 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000234544 SCV000697677 likely pathogenic MYH-associated polyposis 2016-01-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000234544 SCV001527757 pathogenic MYH-associated polyposis 2018-03-23 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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.