Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813088 | SCV000953426 | pathogenic | Fanconi anemia | 2022-12-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 656626). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9399890, 12955722). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln772*) 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). |
Baylor Genetics | RCV001256264 | SCV004196088 | pathogenic | Fanconi anemia complementation group A | 2023-06-26 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001256264 | SCV001425676 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |