ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1271dup (p.Asp424Glufs) (rs1555686616)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588508 SCV000698567 likely pathogenic Juvenile polyposis syndrome 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The SMAD4 c.1271dupA (p.Asp424Glufs) variant results in a premature termination codon, predicted to cause a truncated or absent SMAD4 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in association with JPS in HGMD. One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120900 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.

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