ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002944151 SCV003285526 pathogenic Fanconi anemia 2023-01-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FANCI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg117*) 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).
Baylor Genetics RCV003465879 SCV004197220 likely pathogenic Fanconi anemia complementation group I 2023-01-24 criteria provided, single submitter clinical testing

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