Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001863074 | SCV002272562 | likely pathogenic | Fanconi anemia | 2021-09-20 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 929674). Disruption of this splice site has been observed in individual(s) with FANCG-related conditions (PMID: 11093276). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 2 of the FANCG 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 FANCG are known to be pathogenic (PMID: 12552564). |
| Baylor Genetics | RCV001194938 | SCV004199154 | pathogenic | Fanconi anemia complementation group G | 2023-05-20 | criteria provided, single submitter | clinical testing | |
| Leiden Open Variation Database | RCV001194938 | SCV001364804 | pathogenic | Fanconi anemia complementation group G | 2011-02-07 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach. |