ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.585C>A (p.Tyr195Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria RCV002468905 SCV002765126 likely pathogenic Juvenile polyposis syndrome 2022-10-29 criteria provided, single submitter clinical testing The c.585C>A (p.Tyr195Ter) SMAD4 variant has been reported in our laboratory in a 68-year-old male patient with a clinical diagnosis of Juvenile polyposis. This variant has never been reported in SMAD4 related-disorders. Loss-of-function variants in SMAD4 are known to be pathogenic (PMID: 16152648, 16436638, 22810475). This variant was absent from large population studies (gnomAD no frequency). In summary, the available evidence for c.585C>A (p.Tyr195Ter) SMAD4 variant meets our criteria to be classified as Likely Pathogenic based upon its absence from controls and the clinical correlation in this patient´s phenotype.

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