ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.41G>A (p.Trp14Ter)

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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 RCV003531426 SCV004283367 uncertain significance Aortic valve disease 2 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp14*) in the SMAD6 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SMAD6 cause disease. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with structural heart defects, radioulnar synostosis (PMID: 30796334, 34953066). 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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