Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067317 | SCV001232371 | pathogenic | Fanconi anemia | 2023-10-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln881*) 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: 21273304, 29098742). ClinVar contains an entry for this variant (Variation ID: 860918). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001256594 | SCV004196110 | pathogenic | Fanconi anemia complementation group A | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001256594 | SCV001426086 | 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, |
RCV001256594 | SCV001452860 | pathogenic | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |