Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811557 | SCV000951827 | pathogenic | Fanconi anemia complementation group E | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val311Serfs*2) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with esophageal and breast cancer (PMID: 21279724, 26822949). ClinVar contains an entry for this variant (Variation ID: 655390). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000811557 | SCV001752641 | pathogenic | Fanconi anemia complementation group E | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV001194806 | SCV002011413 | pathogenic | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000811557 | SCV002023033 | pathogenic | Fanconi anemia complementation group E | 2022-03-30 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000811557 | SCV004196803 | likely pathogenic | Fanconi anemia complementation group E | 2023-07-01 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194806 | SCV001364603 | uncertain significance | not provided | 2019-07-20 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Zdenek Kleibl. |
CZECANCA consortium | RCV001391222 | SCV001593138 | pathogenic | Carcinoma of pancreas | 2021-03-04 | no assertion criteria provided | case-control |