ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3622dup (p.Leu1208fs)

dbSNP: rs1567175626
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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 RCV001383185 SCV001582257 pathogenic Fanconi anemia 2022-06-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1208Profs*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. ClinVar contains an entry for this variant (Variation ID: 1070880). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570949 SCV005057715 likely pathogenic Fanconi anemia complementation group I 2024-02-13 criteria provided, single submitter clinical testing

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