Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000707454 | SCV000836552 | uncertain significance | Fanconi anemia | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 73 of the FANCI protein (p.Ile73Phe). This variant is present in population databases (rs138808921, gnomAD 0.003%). This missense change has been observed in individual(s) with chronic kidney disease of unknown etiology (CKDU) (PMID: 30773290). ClinVar contains an entry for this variant (Variation ID: 583183). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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, |
RCV001849430 | SCV002779326 | uncertain significance | Fanconi anemia complementation group I | 2022-05-09 | criteria provided, single submitter | clinical testing | |
Yale Center for Mendelian Genomics, |
RCV001849430 | SCV002106596 | likely pathogenic | Fanconi anemia complementation group I | 2019-02-14 | no assertion criteria provided | literature only |