ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2820_2852del (p.Glu940_Val951delinsAsp)

gnomAD frequency: 0.00001  dbSNP: rs1184165155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228924 SCV001401352 uncertain significance Fanconi anemia 2021-08-31 criteria provided, single submitter clinical testing This variant, c.2820_2852del, is a complex sequence change that results in the deletion of 12 and insertion of 1 amino acid(s) in the FANCI protein (p.Glu940_Val951delinsAsp). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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