Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002371686 | SCV002685043 | uncertain significance | Inborn genetic diseases | 2024-05-31 | criteria provided, single submitter | clinical testing | The p.M312V variant (also known as c.934A>G), located in coding exon 8 of the ACD gene, results from an A to G substitution at nucleotide position 934. The methionine at codon 312 is replaced by valine, 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. |
| Labcorp Genetics |
RCV003754961 | SCV004402427 | uncertain significance | Dyskeratosis congenita, autosomal dominant 6 | 2023-04-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1766646). 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. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 312 of the ACD protein (p.Met312Val). |