Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001063647 | SCV001228504 | pathogenic | Fanconi anemia | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln343*) 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 (rs755018069, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 29098742). ClinVar contains an entry for this variant (Variation ID: 857881). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001256568 | SCV004196588 | pathogenic | Fanconi anemia complementation group A | 2023-02-24 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001256568 | SCV001426051 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards. |