Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept. |
RCV001615388 | SCV001832607 | pathogenic | Fanconi anemia | criteria provided, single submitter | clinical testing | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001615388 | SCV002598682 | likely pathogenic | Fanconi anemia | 2022-09-20 | criteria provided, single submitter | clinical testing | Variant summary: FANCI c.295delC (p.His99IlefsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 8e-06 in 251332 control chromosomes. c.295delC has been reported in the literature in individuals affected with Fanconi Anemia (George_2021).This report suggests association of the variant with Fanconi Anemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessment for this variant to ClinVar after 2014 and classified as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |