ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs375656231
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Total submissions: 4
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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 2024-01-16 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. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). This variant is present in population databases (rs375656231, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with breast or prostate cancer (PMID: 26296701, 29439820). ClinVar contains an entry for this variant (Variation ID: 208639). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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
Baylor Genetics RCV000190643 SCV004197221 likely pathogenic Fanconi anemia complementation group I 2023-01-16 criteria provided, single submitter clinical testing

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