ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs779310267
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Total submissions: 2
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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 2021-03-30 criteria provided, single submitter clinical testing FANCI NM_001113378 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855716 SCV002168194 uncertain significance Fanconi anemia 2022-03-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 581 of the FANCI protein (p.Glu581Asp). This variant is present in population databases (rs779310267, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. ClinVar contains an entry for this variant (Variation ID: 625939). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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