Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001373903 | SCV001570642 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2023-06-09 | 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. 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 not expected to disrupt ACD protein function. ClinVar contains an entry for this variant (Variation ID: 1063998). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 101 of the ACD protein (p.Glu101Gln). |
| Ambry Genetics | RCV002438880 | SCV002753070 | uncertain significance | Inborn genetic diseases | 2023-07-26 | criteria provided, single submitter | clinical testing | The p.E101Q variant (also known as c.301G>C), located in coding exon 1 of the ACD gene, results from a G to C substitution at nucleotide position 301. The glutamic acid at codon 101 is replaced by glutamine, an amino acid with highly similar 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. |