ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.793-1G>C

dbSNP: rs1567642367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036122 SCV001199471 pathogenic Fanconi anemia 2023-11-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the FANCA 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 not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 24584348). ClinVar contains an entry for this variant (Variation ID: 835280). Studies have shown that disruption of this splice site results in skipping of exon 9, and activation of a cryptic splice site in intron 8 and introduces a premature termination codon (PMID: 24584348). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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