Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674049 | SCV000799322 | likely pathogenic | Fanconi anemia complementation group A | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532156 | SCV003443649 | pathogenic | Fanconi anemia | 2022-07-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1295*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798, 23613520). ClinVar contains an entry for this variant (Variation ID: 557856). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV000674049 | SCV001426120 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |