Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674321 | SCV000799639 | likely pathogenic | Fanconi anemia complementation group A | 2018-04-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001037066 | SCV001200462 | 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: 558097). This premature translational stop signal has been observed in individual(s) with Fanconi anemia (PMID: 9371798). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Val135Cysfs*46) 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). |
Leiden Open Variation Database | RCV000674321 | SCV001425765 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |