ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002796286 SCV003201873 pathogenic Familial adenomatous polyposis 2 2022-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu195Argfs*58) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002796286 SCV004018947 pathogenic Familial adenomatous polyposis 2 2023-03-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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