ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003461521 SCV004197186 likely pathogenic Fanconi anemia complementation group I 2023-06-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003636032 SCV004519112 pathogenic Fanconi anemia 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg944Lysfs*23) 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 (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. For these reasons, this variant has been classified as Pathogenic.

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