Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783242 | SCV002022286 | pathogenic | Fanconi anemia complementation group A | 2019-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002034561 | SCV002235368 | pathogenic | Fanconi anemia | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu715*) 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 (rs781436006, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with squamous cell lung carcinoma (PMID: 29625052). ClinVar contains an entry for this variant (Variation ID: 1322867). For these reasons, this variant has been classified as Pathogenic. |