ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.245G>A (p.Arg82Lys)

gnomAD frequency: 0.00002  dbSNP: rs1433506461
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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 RCV001368266 SCV001564653 uncertain significance Aortic valve disease 2 2020-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 82 of the SMAD6 protein (p.Arg82Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SMAD6-related conditions.

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