ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) (rs377767335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000021693 SCV000833066 pathogenic Juvenile polyposis syndrome 2018-06-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln245Profs*20) 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 observed in an individual affected with juvenile polyposis syndrome (PMID: 16436638). This gene is also known as MADH4 and this variant is also known as 729-730insCCGC in the literature. ClinVar contains an entry for this variant (Variation ID: 24813). Loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 16152648, 16436638, 22810475). For these reasons, this variant has been classified as Pathogenic.
Research and Development, ARUP Laboratories RCV000021693 SCV000042359 pathogenic Juvenile polyposis syndrome 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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