Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499830 | SCV000594660 | pathogenic | Fanconi anemia complementation group A | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857096 | SCV002152625 | pathogenic | Fanconi anemia | 2021-07-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 435132). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser447*) 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). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV000499830 | SCV001425786 | uncertain significance | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |