ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1090del (p.Ser364fs)

dbSNP: rs2140681457
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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 RCV001918445 SCV002179982 uncertain significance Aortic valve disease 2 2021-09-15 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. 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 frameshift in the SMAD6 gene (p.Ser364Alafs*175). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 133 amino acid(s) of the SMAD6 protein and extend the protein by 41 additional amino acid residues.

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