ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter)

gnomAD frequency: 0.00001  dbSNP: rs370124822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570847 SCV000674006 pathogenic Hereditary cancer-predisposing syndrome 2017-06-23 criteria provided, single submitter clinical testing The p.S83* pathogenic mutation (also known as c.248C>G), located in coding exon 3 of the MUTYH gene, results from a C to G substitution at nucleotide position 248. This changes the amino acid from a serine to a stop codon within coding exon 3. 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.
Counsyl RCV000576504 SCV000678200 likely pathogenic Familial adenomatous polyposis 2 2016-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000657766 SCV000779519 likely pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is denoted MUTYH c.248C>G at the cDNA level and p.Ser83Ter (S83X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000576504 SCV000965432 pathogenic Familial adenomatous polyposis 2 2023-09-29 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: 485907). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is present in population databases (rs370124822, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser83*) 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).
Baylor Genetics RCV000576504 SCV004199414 likely pathogenic Familial adenomatous polyposis 2 2022-11-16 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.