Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814799 | SCV000955226 | uncertain significance | Fanconi anemia | 2023-07-26 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 658057). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs777033175, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1495 of the SLX4 protein (p.Ala1495Val). |
Fulgent Genetics, |
RCV002495147 | SCV002796350 | uncertain significance | Fanconi anemia complementation group P | 2022-02-02 | criteria provided, single submitter | clinical testing |