ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.364dup (p.Thr122fs)

dbSNP: rs2149164805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257260 SCV002532291 likely pathogenic Hereditary cancer-predisposing syndrome 2021-12-05 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003505197 SCV004328849 pathogenic Familial adenomatous polyposis 2 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr150Asnfs*103) 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. ClinVar contains an entry for this variant (Variation ID: 1692575). For these reasons, this variant has been classified as Pathogenic.

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