ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3888+2T>G

gnomAD frequency: 0.00001  dbSNP: rs1419879344
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383373 SCV001582498 pathogenic Fanconi anemia 2023-11-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 39 of the FANCD2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 23285130). ClinVar contains an entry for this variant (Variation ID: 1071033). Studies have shown that disruption of this splice site results in skipping of exon 39, but is expected to preserve the integrity of the reading-frame (PMID: 23285130). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003469692 SCV004196717 pathogenic Fanconi anemia complementation group D2 2023-10-12 criteria provided, single submitter clinical testing

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