ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1040del (p.Tyr347fs)

dbSNP: rs1894554603
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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 RCV001071898 SCV001237230 uncertain significance Aortic valve disease 2 2019-03-04 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with SMAD6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SMAD6 gene (p.Tyr347Leufs*192). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acids of the SMAD6 protein.

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