ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)

dbSNP: rs2054482551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891843 SCV002141828 pathogenic Fanconi anemia 2024-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg954Glufs*18) 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. ClinVar contains an entry for this variant (Variation ID: 1378855). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002490097 SCV002782260 likely pathogenic Fanconi anemia complementation group I 2022-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV002490097 SCV004197189 likely pathogenic Fanconi anemia complementation group I 2024-03-25 criteria provided, single submitter clinical testing

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