ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.788-9A>C

dbSNP: rs775484792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525377 SCV000632806 likely benign Juvenile polyposis syndrome 2024-04-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999048 SCV004822169 uncertain significance Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-11-30 criteria provided, single submitter clinical testing This variant causes an A to C nucleotide substitution at the -9 position of intron 6 of the SMAD4 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SMAD4-related disorders in the literature. This variant has been identified in 1/251390 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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