ClinVar Miner

Submissions for variant NM_001128425.2(MUTYH):c.1_7dup (p.Pro3fs)

dbSNP: rs1646822375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233094 SCV001405675 pathogenic Familial adenomatous polyposis 2 2019-07-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro3Hisfs*41) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MUTYH are known to be pathogenic (PMID: 18534194, 20663686). 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).

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