ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.696G>A (p.Trp232Ter)

gnomAD frequency: 0.00001  dbSNP: rs759094719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212451 SCV001384034 uncertain significance Aortic valve disease 2 2019-08-24 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. This variant has not been reported in the literature in individuals with SMAD6-related conditions. 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 sequence change creates a premature translational stop signal (p.Trp232*) in the SMAD6 gene. It is expected to result in an absent or disrupted protein product.
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital RCV001799744 SCV001739420 pathogenic Radioulnar synostosis 2020-06-20 no assertion criteria provided research

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