ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.903C>T (p.Tyr301=)

gnomAD frequency: 0.00001  dbSNP: rs746084369
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065119 SCV001230059 uncertain significance Juvenile polyposis syndrome 2021-02-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SMAD4-related conditions. This variant is present in population databases (rs746084369, ExAC 0.01%). This sequence change affects codon 301 of the SMAD4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SMAD4 protein.
Color Diagnostics, LLC DBA Color Health RCV003584814 SCV004362353 likely benign Hereditary cancer-predisposing syndrome 2021-12-14 criteria provided, single submitter clinical testing

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