Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003523063 | SCV004279654 | pathogenic | Fanconi anemia | 2023-05-01 | 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: 915871). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 33224012). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Cys80*) 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). |
Laboratory of Medical Genetics, |
RCV001255874 | SCV005051767 | likely pathogenic | Fanconi anemia complementation group A | 2024-02-01 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV001255874 | SCV005057554 | pathogenic | Fanconi anemia complementation group A | 2024-02-29 | criteria provided, single submitter | clinical testing | |
Istanbul Faculty of Medicine, |
RCV001255874 | SCV001296379 | likely pathogenic | Fanconi anemia complementation group A | 2020-03-17 | no assertion criteria provided | clinical testing | Segregates in family |
Leiden Open Variation Database | RCV001255874 | SCV001425620 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |