Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001071425 | SCV001236731 | pathogenic | Fanconi anemia | 2023-01-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FANCA protein in which other variant(s) (p.Arg1400His) have been determined to be pathogenic (PMID: 17924555, 29098742; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Studies have shown that disruption of this splice site results in skipping of exon 42, but is expected to preserve the integrity of the reading-frame (PMID: 10090479). ClinVar contains an entry for this variant (Variation ID: 864280). Disruption of this splice site has been observed in individuals with Fanconi anemia (PMID: 10090479, 28102861). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 41 of the FANCA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. |
| Fulgent Genetics, |
RCV001256418 | SCV002807592 | pathogenic | Fanconi anemia complementation group A | 2022-04-27 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001256418 | SCV004195990 | pathogenic | Fanconi anemia complementation group A | 2023-10-27 | criteria provided, single submitter | clinical testing | |
| Leiden Open Variation Database | RCV001256418 | SCV001425867 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |