ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.8G>A (p.Arg3Lys)

gnomAD frequency: 0.00001  dbSNP: rs1337502697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001352169 SCV001546705 uncertain significance Aortic valve disease 2 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 3 of the SMAD6 protein (p.Arg3Lys). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1047455). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Ambry Genetics RCV002377499 SCV002686279 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The p.R3K variant (also known as c.8G>A), located in coding exon 1 of the SMAD6 gene, results from a G to A substitution at nucleotide position 8. The arginine at codon 3 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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