ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.668-15T>G

gnomAD frequency: 0.00001  dbSNP: rs1378869804
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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 RCV001939600 SCV002230000 likely benign Juvenile polyposis syndrome 2025-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003585168 SCV004362342 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-20 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -15 position of intron 5 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 1/31304 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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