ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)

dbSNP: rs907106559
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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 RCV001957738 SCV002215625 pathogenic Fanconi anemia 2023-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1040Glufs*8) 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: 1438031). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002503674 SCV002810906 likely pathogenic Fanconi anemia complementation group I 2022-01-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV002503674 SCV004197170 likely pathogenic Fanconi anemia complementation group I 2023-08-30 criteria provided, single submitter clinical testing

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