Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001982189 | SCV002216965 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2023-07-14 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 1433179). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs761628896, gnomAD 0.005%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 32 of the ACD protein (p.Gly32Arg). |
| Ambry Genetics | RCV002370557 | SCV002686986 | uncertain significance | Inborn genetic diseases | 2021-11-24 | criteria provided, single submitter | clinical testing | The p.G32R variant (also known as c.94G>C), located in coding exon 1 of the ACD gene, results from a G to C substitution at nucleotide position 94. The glycine at codon 32 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. |