Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761273 | SCV000891232 | likely pathogenic | Fanconi anemia complementation group A | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001043409 | SCV001207154 | pathogenic | Fanconi anemia | 2023-03-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 623165). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 34, but is expected to preserve the integrity of the reading-frame (PMID: 24989076). This variant is also known as c.3348-1G>A. Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 24989076, 29098742). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs769862233, gnomAD 0.07%). This sequence change affects an acceptor splice site in intron 33 of the FANCA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. |
Baylor Genetics | RCV000761273 | SCV004196116 | pathogenic | Fanconi anemia complementation group A | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000761273 | SCV001462881 | pathogenic | Fanconi anemia complementation group A | 2020-09-16 | no assertion criteria provided | clinical testing |