ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.1464C>T (p.Thr488=) (rs373973053)

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
Ambry Genetics RCV000163503 SCV000214061 likely benign Hereditary cancer-predisposing syndrome 2015-06-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000225914 SCV000285931 likely benign MYH-associated polyposis 2020-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000423962 SCV000513738 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000163503 SCV000685583 likely benign Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000423962 SCV001337803 likely benign not specified 2020-01-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355953 SCV001550986 likely benign Carcinoma of colon no assertion criteria provided clinical testing The MUTYH p.Thr488= variant was not identified in the literature nor was it identified in the GeneInsight-COGR, Cosmic, or UMD-LSDB, databases. The variant was identified in dbSNP (ID: rs373973053) as "With Likely benign allele ", and in ClinVar database (classified as likely benign by Ambry Genetics, Invitae, GeneDx, and Color Genomics). The variant was identified in control databases in 5 of 246234 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 3 of 33582 chromosomes (freq: 0.00009), European in 1 of 111694 chromosomes (freq: 0.000009), East Asian in 1 of 17248 chromosomes (freq: 0.00006), while the variant was not observed in the African, Other, Ashkenazi Jewish, Finnish, and South Asian populations. The p.Thr488= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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.