ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1228_1229delCA (p.Gln410Glufs) (rs1555686608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571376 SCV000676281 pathogenic Hereditary cancer-predisposing syndrome 2017-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Invitae RCV000551071 SCV000632756 pathogenic Juvenile polyposis syndrome 2017-02-27 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 10 of the SMAD4 mRNA (c.1228_1229delCA), causing a frameshift at codon 410. This creates a premature translational stop signal (p.Gln410Glufs*18) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMAD4 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with juvenile polyposis syndrome and hemorrhagic telanciectasia (PMID: 20685751). For these reasons, this variant has been classified as Pathogenic.

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