ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.727dup (p.Asp243fs)

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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 RCV003504632 SCV004306310 pathogenic Familial adenomatous polyposis 2 2021-03-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with MUTYH-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp271Glyfs*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).
All of Us Research Program, National Institutes of Health RCV003504632 SCV004827115 likely pathogenic Familial adenomatous polyposis 2 2023-06-28 criteria provided, single submitter clinical testing

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