Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002020197 | SCV002296335 | uncertain significance | Fanconi anemia | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1564 of the SLX4 protein (p.Pro1564Arg). 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1502358). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). |
| Ambry Genetics | RCV004046038 | SCV004953299 | uncertain significance | Inborn genetic diseases | 2024-02-28 | criteria provided, single submitter | clinical testing | The c.4691C>G (p.P1564R) alteration is located in exon 13 (coding exon 12) of the SLX4 gene. This alteration results from a C to G substitution at nucleotide position 4691, causing the proline (P) at amino acid position 1564 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |