Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000485198 | SCV000566608 | uncertain significance | not specified | 2015-05-15 | criteria provided, single submitter | clinical testing | This variant is denoted FANCC c.1355_1358delACCTinsGCCA at the cDNA level and p.His452_Leu453delinsArgHis (H452_L453delinsRH) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is GGCC[ACCT][GCCA]CCTG. The deletion and insertion results in two amino acid substitutions: His452Arg and Leu453His. Neither this combined variant nor the two missense variants have, to our knowledge, been reported in the literature as pathogenic or benign. FANCC c.1355_1358delACCTinsGCCA was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant occurs in a region which is not conserved and is not located in a known functional domain. Based on currently available information, we consider FANCC c.1355_1358delACCTinsGCCA to be a variant of uncertain significance. |
Fulgent Genetics, |
RCV002506162 | SCV002812154 | uncertain significance | Fanconi anemia complementation group C | 2021-07-11 | criteria provided, single submitter | clinical testing |