Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000630872 | SCV000751843 | uncertain significance | Fanconi anemia | 2022-03-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 526351). 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. This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs779039237, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 869 of the SLX4 protein (p.Arg869Thr). |
| Ambry Genetics | RCV004025393 | SCV004953285 | uncertain significance | Inborn genetic diseases | 2023-10-14 | criteria provided, single submitter | clinical testing | The c.2606G>C (p.R869T) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to C substitution at nucleotide position 2606, causing the arginine (R) at amino acid position 869 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |