Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001194814 | SCV002167359 | uncertain significance | Fanconi anemia complementation group E | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 9 of the FANCE gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is present in population databases (rs772678337, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with clinical features of FANCE-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 929581). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Baylor Genetics | RCV001194814 | SCV004199073 | likely pathogenic | Fanconi anemia complementation group E | 2023-02-16 | criteria provided, single submitter | clinical testing | |
Leiden Open Variation Database | RCV001194814 | SCV001364614 | pathogenic | Fanconi anemia complementation group E | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |