ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)

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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 RCV003461516 SCV004197178 likely pathogenic Fanconi anemia complementation group I 2023-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779030 SCV004663022 pathogenic Fanconi anemia 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1049Phefs*12) 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 not present in population databases (gnomAD no frequency). 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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