ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.604_605insAGATCGGAAGAGCACACGTCGCTCTTCCGATCTTTAG (p.Ala202fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699914 SCV005204998 pathogenic Juvenile polyposis syndrome 2024-06-07 criteria provided, single submitter clinical testing Variant summary: SMAD4 c.604_605ins37 (c.604_605insAGATCGGAAGAGCACACGTCGCTCTTCCGATCTTTAG, p.Ala202GlufsX16) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251482 control chromosomes. To our knowledge, no occurrence of c.604_605ins37 in individuals affected with Juvenile Polyposis Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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