ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450437 SCV004188336 pathogenic Familial adenomatous polyposis 2 2023-07-25 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Labcorp Genetics (formerly Invitae), Labcorp RCV003450437 SCV004383847 pathogenic Familial adenomatous polyposis 2 2023-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln316*) 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. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.

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