Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000698930 | SCV000827621 | uncertain significance | Fanconi anemia | 2023-07-08 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 513 of the SLX4 protein (p.Trp513Arg). This variant is present in population databases (rs769495113, gnomAD 0.06%). 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: 576434). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV003344008 | SCV004066006 | uncertain significance | Inborn genetic diseases | 2023-09-12 | criteria provided, single submitter | clinical testing | The c.1537T>C (p.W513R) alteration is located in exon 7 (coding exon 6) of the SLX4 gene. This alteration results from a T to C substitution at nucleotide position 1537, causing the tryptophan (W) at amino acid position 513 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |