ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1743A>C (p.Glu581Asp) (rs779310267)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767961 SCV000898678 uncertain significance Fanconi anemia, complementation group I 2017-10-16 criteria provided, single submitter clinical testing FANCI NM_001113378.1 exon 18 p.Glu581Asp (c.1743A>C): This variant has not been reported in the literature but is present in 2/24040 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs779310267). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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