ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001771699 SCV002011548 uncertain significance Fanconi anemia complementation group I 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001885118 SCV002165943 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 425 of the FANCI protein (p.Ile425Val). This variant is present in population databases (rs775228768, gnomAD 0.002%). 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: 1319718). 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.
Sema4,Sema4 RCV001885118 SCV002536489 uncertain significance Fanconi anemia 2022-03-18 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001771699 SCV002792875 uncertain significance Fanconi anemia complementation group I 2021-07-27 criteria provided, single submitter clinical testing

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