Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001860564 | SCV002133301 | uncertain significance | Fanconi anemia | 2023-08-24 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 813709). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs758785487, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 746 of the SLX4 protein (p.Glu746Lys). |
Sema4, |
RCV001860564 | SCV002529294 | uncertain significance | Fanconi anemia | 2021-11-03 | criteria provided, single submitter | curation | |
Department of Pediatrics, |
RCV001252938 | SCV001164081 | uncertain significance | Microcephaly | no assertion criteria provided | research |