ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.876_879del (p.His292fs)

dbSNP: rs2053066105
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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 RCV001035379 SCV001198704 pathogenic Fanconi anemia 2021-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCI are known to be pathogenic (PMID: 17452773, 17460694). This variant has not been reported in the literature in individuals with FANCI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His292Glnfs*3) in the FANCI gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV004570090 SCV005057721 likely pathogenic Fanconi anemia complementation group I 2023-12-07 criteria provided, single submitter clinical testing

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