Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000634265 | SCV000755568 | uncertain significance | Baller-Gerold syndrome | 2023-10-20 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1049 of the RECQL4 protein (p.Asp1049Asn). This variant is present in population databases (no rsID available, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 528968). 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 RECQL4 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. |
| Ambry Genetics | RCV004955731 | SCV005486989 | uncertain significance | Inborn genetic diseases | 2024-12-08 | criteria provided, single submitter | clinical testing | The p.D1049N variant (also known as c.3145G>A), located in coding exon 18 of the RECQL4 gene, results from a G to A substitution at nucleotide position 3145. The aspartic acid at codon 1049 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. Based on the available evidence, the clinical significance of this variant remains unclear. |