ClinVar Miner

Submissions for variant NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) (rs587780088)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000447652 SCV000670153 pathogenic Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Color RCV000447652 SCV000537664 pathogenic Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763343 SCV000894025 pathogenic MYH-associated polyposis; Pilomatrixoma; Neoplasm of stomach 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000115767 SCV000149676 pathogenic not provided 2018-06-29 criteria provided, single submitter clinical testing This pathogenic variant is denoted MUTYH c.55C>T at the cDNA level and p.Arg19Ter (R19X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in the homozygous or compound heterozygous state in at least two individuals with polyposis and/or colorectal cancer (CRC) and was observed in the single heterozygous state in other individuals with CRC and/or polyps (Jones 2009, Nielsen 2009, Vogt 2009, Kuno 2012, Shinmura 2014, Li 2017, Takao 2018). We consider MUTYH Arg19Ter to be pathogenic.
Invitae RCV000206117 SCV000260463 pathogenic MYH-associated polyposis 2018-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg19*) 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 and colorectal cancer (PMID: 19394335, 22641385, 24799981). ClinVar contains an entry for this variant (Variation ID: 127845). Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). For these reasons, this variant has been classified as Pathogenic.
Pathway Genomics RCV000144639 SCV000189966 pathogenic Carcinoma of colon 2014-07-24 no assertion criteria provided clinical testing

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