Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001048314 | SCV001212312 | uncertain significance | Baller-Gerold syndrome | 2019-01-25 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with histidine at codon 424 of the RECQL4 protein (p.Asp424His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs765611938, ExAC 0.002%). This variant has not been reported in the literature in individuals with RECQL4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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 | RCV002552640 | SCV003637463 | uncertain significance | Inborn genetic diseases | 2022-08-08 | criteria provided, single submitter | clinical testing | The c.1270G>C (p.D424H) alteration is located in exon 7 (coding exon 7) of the RECQL4 gene. This alteration results from a G to C substitution at nucleotide position 1270, causing the aspartic acid (D) at amino acid position 424 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |