ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2614C>G (p.Gln872Glu)

gnomAD frequency: 0.00001  dbSNP: rs1368909419
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698535 SCV000827203 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 872 of the FANCI protein (p.Gln872Glu). This variant is present in population databases (no rsID available, gnomAD 0.03%). 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: 576117). 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 RCV000765227 SCV000896463 uncertain significance Fanconi anemia complementation group I 2021-12-29 criteria provided, single submitter clinical testing

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