ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.430_431delTC (p.Ser144Argfs) (rs377767328)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216645 SCV000276650 pathogenic Hereditary cancer-predisposing syndrome 2017-12-12 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)
Invitae RCV000021684 SCV000632786 pathogenic Juvenile polyposis syndrome 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser144Argfs*7) in the SMAD4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with juvenile polyposis syndrome and adenomatous polyposis (PMID: 16436638, 23399955). ClinVar contains an entry for this variant (Variation ID: 24804). Loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 16436638). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021684 SCV000042350 pathogenic Juvenile polyposis syndrome 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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