ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1166_1167delTG (p.Leu389Terfs) (rs1555686600)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542891 SCV000632753 pathogenic Juvenile polyposis syndrome 2017-05-11 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 10 of the SMAD4 mRNA (c.1166_1167delTG), causing a frameshift at codon 389. This creates a premature translational stop signal (p.Leu389*) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 22810475, 16152648). For these reasons, this variant has been classified as Pathogenic.

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