Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000545079 | SCV000626452 | uncertain significance | Fanconi anemia | 2022-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1814 of the SLX4 protein (p.Arg1814His). This variant is present in population databases (rs201036767, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 456337). 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 disruptive. 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. |
| Fulgent Genetics, |
RCV002490954 | SCV002803955 | uncertain significance | Fanconi anemia complementation group P | 2021-12-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004023750 | SCV004953302 | uncertain significance | Inborn genetic diseases | 2021-09-16 | criteria provided, single submitter | clinical testing | The c.5441G>A (p.R1814H) alteration is located in exon 15 (coding exon 14) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 5441, causing the arginine (R) at amino acid position 1814 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |