Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001067900 | SCV001232983 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 283 of the ACD protein (p.Gly283Val). This variant is present in population databases (rs780160617, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 861384). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACD protein function with a positive predictive value of 80%. 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. |
| Ambry Genetics | RCV002411599 | SCV002675371 | uncertain significance | Inborn genetic diseases | 2021-07-31 | criteria provided, single submitter | clinical testing | The p.G283V variant (also known as c.848G>T), located in coding exon 7 of the ACD gene, results from a G to T substitution at nucleotide position 848. The glycine at codon 283 is replaced by valine, 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. |