ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg)

dbSNP: rs1567091826
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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 RCV001341967 SCV001535864 uncertain significance Aortic valve disease 2 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 219 of the SMAD6 protein (p.Pro219Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. 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 affected with SMAD6-related conditions. 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 tolerated. 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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