ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)

dbSNP: rs761982725
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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 RCV001979170 SCV002223472 pathogenic Fanconi anemia 2022-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser333*) 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 (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCI-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484717 SCV002802713 likely pathogenic Fanconi anemia complementation group I 2021-08-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV002484717 SCV004199189 likely pathogenic Fanconi anemia complementation group I 2023-10-25 criteria provided, single submitter clinical testing

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