ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter) (rs375656231)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Individualized Medicine,Mayo Clinic RCV000190643 SCV000245686 likely pathogenic Fanconi anemia, complementation group I 2014-01-01 criteria provided, single submitter research
Invitae RCV000630839 SCV000751808 pathogenic Fanconi anemia 2019-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys808*) in the FANCI gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs375656231, ExAC 0.003%). This variant has been reported in individuals affected with breast or prostate cancer (PMID: 26296701, 29439820). ClinVar contains an entry for this variant (Variation ID: 208639). Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). For these reasons, this variant has been classified as Pathogenic.
Daryl Scott Lab,Baylor College of Medicine RCV000190643 SCV001448633 pathogenic Fanconi anemia, complementation group I 2020-11-11 criteria provided, single submitter clinical testing

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