ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1041_1044del (p.Leu346_Tyr347insTer)

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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 RCV003024007 SCV003329894 uncertain significance Aortic valve disease 2 2022-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr347*) in the SMAD6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 150 amino acid(s) of the SMAD6 protein. 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. This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is not present in population databases (gnomAD no frequency).

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