ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs)

dbSNP: rs2149164388
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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 RCV001390871 SCV001592737 pathogenic Familial adenomatous polyposis 2 2021-03-29 criteria provided, single submitter clinical testing 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 sequence change creates a premature translational stop signal (p.Gln154Glufs*98) in the MUTYH gene. It is expected to result in an absent or disrupted protein product. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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).
Myriad Genetics, Inc. RCV001390871 SCV004043895 pathogenic Familial adenomatous polyposis 2 2023-05-22 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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