ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460384 SCV000547830 pathogenic Fanconi anemia 2019-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr487*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769248873, ExAC 0.01%). This variant has been observed in an individual affected with Fanconi anemia (PMID: 26590883). ClinVar contains an entry for this variant (Variation ID: 408247). Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). 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
Leiden Open Variation Database RCV000502163 SCV001364870 pathogenic Fanconi anemia, complementation group I 2012-01-20 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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