ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.249dup (p.Pro84fs)

dbSNP: rs878854189
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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 RCV000234687 SCV000285945 pathogenic Familial adenomatous polyposis 2 2023-01-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 238345). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro112Thrfs*9) 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).
Baylor Genetics RCV000234687 SCV004199423 likely pathogenic Familial adenomatous polyposis 2 2022-07-22 criteria provided, single submitter clinical testing

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