ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) (rs1060500739)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467655 SCV000543749 pathogenic Juvenile polyposis syndrome 2016-12-24 criteria provided, single submitter clinical testing This sequence change deletes 5 nucleotide in exon 3 of the SMAD4 mRNA (c.263_267delAAGGA), causing a frameshift at codon 88. This creates a premature translational stop signal (p.Lys88Ilefs*14) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SMAD4 are known to be pathogenic. This particular variant has been reported in the literature in individuals with juvenile polyposis syndrome (PMID: 24525918). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581213 SCV000692026 likely pathogenic not provided no assertion criteria provided clinical testing

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