Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671445 | SCV000796421 | likely pathogenic | Fanconi anemia complementation group A | 2017-12-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855559 | SCV002181687 | pathogenic | Fanconi anemia | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 38 of the FANCA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened 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 clinical features of Fanconi anemia (PMID: 21273304). ClinVar contains an entry for this variant (Variation ID: 555597). Studies have shown that disruption of this splice site results in skipping of exon 38, but is expected to preserve the integrity of the reading-frame (PMID: 21273304). This variant disrupts a region of the FANCA protein in which other variant(s) (p.Phe1263del) have been determined to be pathogenic (PMID: 9371798, 15643609, 21273304, 21659346). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000671445 | SCV004196011 | likely pathogenic | Fanconi anemia complementation group A | 2023-10-07 | criteria provided, single submitter | clinical testing |