ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.158-2A>G

dbSNP: rs762128147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490489 SCV000267311 likely pathogenic Fanconi anemia complementation group I 2016-03-18 criteria provided, single submitter reference population
Baylor Genetics RCV000490489 SCV004197226 pathogenic Fanconi anemia complementation group I 2022-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003522949 SCV004277271 likely pathogenic Fanconi anemia 2023-05-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the FANCI gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs762128147, gnomAD 0.01%). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site results in a single nucleotide insertion and introduces a premature termination codon (PMID: 30792206). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 225355). Disruption of this splice site has been observed in individual(s) with fanconi anemia (PMID: 30792206).

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