ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2833G>C (p.Glu945Gln)

gnomAD frequency: 0.00006  dbSNP: rs142322239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502874 SCV000594719 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000630843 SCV000751812 uncertain significance Fanconi anemia 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 945 of the FANCI protein (p.Glu945Gln). This variant is present in population databases (rs142322239, gnomAD 0.01%). 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: 435160). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002481614 SCV002777471 uncertain significance Fanconi anemia complementation group I 2022-03-19 criteria provided, single submitter clinical testing

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