ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797840 SCV000937424 uncertain significance Aortic valve disease 2 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr177*) in the SMAD6 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SMAD6-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. 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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