Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002026675 | SCV002308077 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2022-09-13 | 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tryptophan amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1516539). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs773291286, gnomAD 0.06%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 53 of the ACD protein (p.Arg53Trp). |
| Ambry Genetics | RCV002391129 | SCV002703378 | uncertain significance | Inborn genetic diseases | 2024-04-20 | criteria provided, single submitter | clinical testing | The p.R53W variant (also known as c.157C>T), located in coding exon 1 of the ACD gene, results from a C to T substitution at nucleotide position 157. The arginine at codon 53 is replaced by tryptophan, 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. |