Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000541710 | SCV000626423 | uncertain significance | Fanconi anemia | 2024-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1224 of the SLX4 protein (p.Glu1224Val). This variant is present in population databases (rs566584111, gnomAD 0.1%). 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: 456312). 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 disruptive. 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. |
| Gene |
RCV001775844 | SCV002013358 | uncertain significance | not provided | 2024-10-21 | criteria provided, single submitter | clinical testing | In silico analysis indicates that this missense variant does not alter protein structure/function; Reported as a germline variant in a pediatric patient with craniopharyngioma (PMID: 34301788); This variant is associated with the following publications: (PMID: 34301788) |
| Fulgent Genetics, |
RCV002490949 | SCV002777601 | uncertain significance | Fanconi anemia complementation group P | 2024-04-23 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586764 | SCV005075884 | uncertain significance | not specified | 2024-04-02 | criteria provided, single submitter | clinical testing | Variant summary: SLX4 c.3671A>T (p.Glu1224Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-05 in 250712 control chromosomes. This frequency does not allow for any conclusion about variant significance. To our knowledge, no occurrence of c.3671A>T in individuals affected with Fanconi Anemia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 456312). Based on the evidence outlined above, the variant was classified as uncertain significance. |