Total submissions: 2
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 |