Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002416630 | SCV002681093 | uncertain significance | Inborn genetic diseases | 2022-01-21 | criteria provided, single submitter | clinical testing | The p.S26R variant (also known as c.78C>A), located in coding exon 1 of the ACD gene, results from a C to A substitution at nucleotide position 78. The serine at codon 26 is replaced by arginine, an amino acid with dissimilar 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. |
| Labcorp Genetics |
RCV003754957 | SCV004516245 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2023-01-17 | 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1761111). This variant has not been reported in the literature in individuals affected with ACD-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 26 of the ACD protein (p.Ser26Arg). |