ClinVar Miner

Submissions for variant NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) (rs769248873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460384 SCV000547830 pathogenic Fanconi anemia 2016-08-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 487 (p.Tyr487*) of the FANCI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCI are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with Fanconi anemia (PMID: 26590883). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000502163 SCV000594727 pathogenic Fanconi anemia, complementation group I 2017-03-16 criteria provided, single submitter clinical testing

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