ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)

gnomAD frequency: 0.00003  dbSNP: rs1491132258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001194986 SCV002783157 likely pathogenic Fanconi anemia complementation group I 2021-07-06 criteria provided, single submitter clinical testing
Invitae RCV002559234 SCV003499445 pathogenic Fanconi anemia 2024-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1208Valfs*11) 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 present in population databases (rs796106594, gnomAD 0.01%). 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: 929716). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001194986 SCV004197203 pathogenic Fanconi anemia complementation group I 2023-04-04 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194986 SCV001364860 pathogenic Fanconi anemia complementation group I 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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