ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1278del (p.His427fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003596307 SCV004251638 pathogenic Juvenile polyposis syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His427Ilefs*9) in the SMAD4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 16152648, 16436638, 22810475). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SMAD4-related conditions. For these reasons, this variant has been classified as Pathogenic.

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