Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002030135 | SCV002110375 | uncertain significance | Aortic valve disease 2 | 2022-09-01 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1346673). 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 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 162 of the SMAD6 protein (p.Arg162Cys). |
| Ambry Genetics | RCV004671452 | SCV005167175 | uncertain significance | Inborn genetic diseases | 2024-05-11 | criteria provided, single submitter | clinical testing | The p.R162C variant (also known as c.484C>T), located in coding exon 1 of the SMAD6 gene, results from a C to T substitution at nucleotide position 484. The arginine at codon 162 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |