Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000674205 | SCV000799503 | likely pathogenic | Fanconi anemia complementation group A | 2018-04-23 | criteria provided, single submitter | clinical testing | |
| Center for Genomics, |
RCV000674205 | SCV000898675 | likely pathogenic | Fanconi anemia complementation group A | 2021-03-30 | criteria provided, single submitter | clinical testing | FANCA NM_000135 exon 2 c.189+1G>A: This variant has not been reported in the literature but is present in 1/14984 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant alters the consensus splice sequence (+/-1,2) which is predicted to result in an absent or abnormal protein. Loss of function variants are a known mechanism of disease for this gene (Mathew 2006 PMID:16998502). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic. |
| Ce |
RCV000996416 | SCV001151106 | likely pathogenic | not provided | 2020-03-01 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001377209 | SCV001574481 | likely pathogenic | Fanconi anemia | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 2 of the FANCA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 31558676). ClinVar contains an entry for this variant (Variation ID: 557994). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Center for Genomic Medicine, |
RCV000674205 | SCV004805256 | likely pathogenic | Fanconi anemia complementation group A | 2024-03-25 | criteria provided, single submitter | research |