Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227821 | SCV001400197 | pathogenic | Fanconi anemia | 2023-09-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His1133Thrfs*7) 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 variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 955220). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV001256288 | SCV001425709 | uncertain significance | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |