Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001951367 | SCV002240988 | pathogenic | Fanconi anemia complementation group E | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro414Serfs*54) in the FANCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCE are known to be pathogenic (PMID: 11001585, 17924555). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with personal and/or family history of breast and/or ovarian cancer (PMID: 27913932). ClinVar contains an entry for this variant (Variation ID: 1459995). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001951367 | SCV004196808 | likely pathogenic | Fanconi anemia complementation group E | 2023-04-19 | criteria provided, single submitter | clinical testing |