Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001912891 | SCV002172899 | uncertain significance | Aortic valve disease 2 | 2022-09-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SMAD6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 18 of the SMAD6 protein (p.Val18Gly). ClinVar contains an entry for this variant (Variation ID: 1401494). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). |
| Ambry Genetics | RCV004041787 | SCV005023206 | uncertain significance | Inborn genetic diseases | 2023-10-27 | criteria provided, single submitter | clinical testing | The p.V18G variant (also known as c.53T>G), located in coding exon 1 of the SMAD6 gene, results from a T to G substitution at nucleotide position 53. The valine at codon 18 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |