ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)

gnomAD frequency: 0.00001  dbSNP: rs138808921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707454 SCV000836552 uncertain significance Fanconi anemia 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 73 of the FANCI protein (p.Ile73Phe). This variant is present in population databases (rs138808921, gnomAD 0.003%). This missense change has been observed in individual(s) with chronic kidney disease of unknown etiology (CKDU) (PMID: 30773290). ClinVar contains an entry for this variant (Variation ID: 583183). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001849430 SCV002779326 uncertain significance Fanconi anemia complementation group I 2022-05-09 criteria provided, single submitter clinical testing
Yale Center for Mendelian Genomics, Yale University RCV001849430 SCV002106596 likely pathogenic Fanconi anemia complementation group I 2019-02-14 no assertion criteria provided literature only

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