Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409456 | SCV000487303 | pathogenic | Fanconi anemia complementation group A | 2016-11-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001245476 | SCV001418767 | pathogenic | Fanconi anemia | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg52*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is present in population databases (rs773159223, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 10094191, 28973083). ClinVar contains an entry for this variant (Variation ID: 371668). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV000409456 | SCV001426018 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |
Natera, |
RCV001245476 | SCV002090792 | pathogenic | Fanconi anemia | 2021-06-04 | no assertion criteria provided | clinical testing |