ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.1450T>C (p.Cys484Arg)

dbSNP: rs1894575710
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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 RCV002034188 SCV002316261 uncertain significance Aortic valve disease 2 2021-07-30 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 484 of the SMAD6 protein (p.Cys484Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.

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