ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1198delA (p.Arg400Glyfs) (rs1060500734)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464430 SCV000543743 pathogenic Juvenile polyposis syndrome 2016-08-16 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 10 of the SMAD4 mRNA (c.1198delA), causing a frameshift at codon 400. This creates a premature translational stop signal (p.Arg400Glyfs*15) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in SMAD4 are known to be pathogenic (PMID: 22810475, 16152648). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000571557 SCV000676275 pathogenic Hereditary cancer-predisposing syndrome 2016-08-05 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)

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