ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.317_318del (p.Glu106fs)

dbSNP: rs2149166157
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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 RCV002007199 SCV002232901 pathogenic Familial adenomatous polyposis 2 2022-05-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu134Glyfs*118) 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).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268588 SCV002552519 likely pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing

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