ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1512delT (p.Phe505Leufs) (rs864622252)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205617 SCV000259859 likely pathogenic Juvenile polyposis syndrome 2015-08-08 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 12 of the SMAD4 mRNA (c.1512delT), causing a frameshift at codon 505. This creates a premature translational stop signal in the last exon of the SMAD4 mRNA (p.Phe505Leufs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated SMAD4 protein. While this particular sequence change has not been reported in the literature, truncating sequence changes in SMAD4 are known to be pathogenic (PMID: 22810475, 16152648). For these reasons, this variant has been classified as Likely Pathogenic.

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