Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001065876 | SCV001230864 | uncertain significance | Baller-Gerold syndrome | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1178 of the RECQL4 protein (p.Gly1178Glu). This variant is not present in population databases (gnomAD no frequency). 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: 859707). 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 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 | RCV002555847 | SCV003672920 | uncertain significance | Inborn genetic diseases | 2021-10-22 | criteria provided, single submitter | clinical testing | The c.3533G>A (p.G1178E) alteration is located in exon 21 (coding exon 21) of the RECQL4 gene. This alteration results from a G to A substitution at nucleotide position 3533, causing the glycine (G) at amino acid position 1178 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |