Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200642 | SCV000255181 | uncertain significance | Fanconi anemia | 2023-03-14 | 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: 216801). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs763833617, gnomAD 0.005%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 469 of the SLX4 protein (p.Pro469Ala). |
Fulgent Genetics, |
RCV002485324 | SCV002789243 | uncertain significance | Fanconi anemia complementation group P | 2022-05-12 | criteria provided, single submitter | clinical testing |