Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001317190 | SCV001507839 | uncertain significance | Fanconi anemia | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 923 of the SLX4 protein (p.Met923Leu). This variant is present in population databases (rs573280243, gnomAD 0.02%). 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: 1017960). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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, |
RCV002493657 | SCV002799743 | uncertain significance | Fanconi anemia complementation group P | 2022-04-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003246871 | SCV003950425 | uncertain significance | Inborn genetic diseases | 2023-05-24 | criteria provided, single submitter | clinical testing | The c.2767A>T (p.M923L) alteration is located in exon 12 (coding exon 11) of the SLX4 gene. This alteration results from a A to T substitution at nucleotide position 2767, causing the methionine (M) at amino acid position 923 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |