ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.834del (p.Ile279fs)

dbSNP: rs748961800
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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 RCV001901773 SCV002173380 pathogenic Fanconi anemia 2022-01-13 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 present in population databases (rs748961800, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ile279Serfs*7) 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 RCV003464219 SCV004197215 likely pathogenic Fanconi anemia complementation group I 2023-11-03 criteria provided, single submitter clinical testing

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