Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000560432 | SCV000626430 | uncertain significance | Fanconi anemia | 2022-11-01 | criteria provided, single submitter | clinical testing | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 456319). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs375108717, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1366 of the SLX4 protein (p.Arg1366His). |
| Ambry Genetics | RCV004023749 | SCV004953293 | uncertain significance | Inborn genetic diseases | 2023-12-28 | criteria provided, single submitter | clinical testing | The c.4097G>A (p.R1366H) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a G to A substitution at nucleotide position 4097, causing the arginine (R) at amino acid position 1366 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |