Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001209298 | SCV001380725 | uncertain significance | Baller-Gerold syndrome | 2019-07-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RECQL4-related conditions. This sequence change replaces glycine with glutamic acid at codon 866 of the RECQL4 protein (p.Gly866Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
| Ambry Genetics | RCV002561707 | SCV003750347 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.2597G>A (p.G866E) alteration is located in exon 15 (coding exon 15) of the RECQL4 gene. This alteration results from a G to A substitution at nucleotide position 2597, causing the glycine (G) at amino acid position 866 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |