ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter)

gnomAD frequency: 0.00001  dbSNP: rs1290060451
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001364596 SCV001560752 uncertain significance Aortic valve disease 2 2018-06-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SMAD6 gene (p.Tyr459*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 38 amino acids of the SMAD6 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SMAD6-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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