Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002266140 | SCV002547622 | likely pathogenic | Fanconi anemia | 2022-05-27 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 38-40 in the FANCD2 gene. A presumed nomenclature of c.(3777+1_3778-1)_(3963+1_3964-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in an in-frame deletion change in the FANCD2 gene, removing 62 amino acids (the predicted protein level effect of the variant is p.Ile1260_Arg1321del). The variant was absent in 21694 control chromosomes (gnomAD database, Structural Variants dataset). To our knowledge, no occurrence of c.(3777+1_3778-1)_(3963+1_3964-1)del in individuals affected with Fanconi Anemia and no experimental evidence demonstrating its impact on protein function have been reported. However, missense- and splice variants in this region have been reported in affected individuals (HGMD), indicating the functional importance of this protein region. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |