Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000421802 | SCV000520943 | likely pathogenic | not provided | 2022-07-31 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 23613520, 17436244) |
Fulgent Genetics, |
RCV001535895 | SCV001752528 | pathogenic | Fanconi anemia complementation group D2 | 2021-06-30 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002256229 | SCV002531768 | pathogenic | Fanconi anemia | 2021-11-18 | criteria provided, single submitter | curation | |
Baylor Genetics | RCV001535895 | SCV004196736 | pathogenic | Fanconi anemia complementation group D2 | 2023-08-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002256229 | SCV004370426 | pathogenic | Fanconi anemia | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 12 of the FANCD2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. 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. Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 17436244, 23613520). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS12-1G>A. ClinVar contains an entry for this variant (Variation ID: 381559). Studies have shown that disruption of this splice site results in activation of a cryptic splice acceptor and introduces a premature termination codon (PMID: 17436244). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Sung Lab, |
RCV003234557 | SCV003932622 | pathogenic | Acute myeloid leukemia | 2023-06-08 | no assertion criteria provided | clinical testing |