ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis) (rs1064793615)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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