ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3066+1G>T

dbSNP: rs587783028
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000144483 SCV000794839 likely pathogenic Fanconi anemia complementation group A 2017-10-17 criteria provided, single submitter clinical testing
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV000144483 SCV004047743 pathogenic Fanconi anemia complementation group A criteria provided, single submitter clinical testing The splice site c.3066+1G>T variant in the FANCA gene has been reported in homozygous state in an individual affected with Fanconi anemia (Solomon PJ. et al., 2015). The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. It has been submitted to ClinVar as Likely Pathogenic. The variant affects the invariant GT donor splice site. For these reasons, this variant has been classified as Pathogenic.
Invitae RCV003522940 SCV004281055 likely pathogenic Fanconi anemia 2023-08-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 31 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: 25953249, 34585473). ClinVar contains an entry for this variant (Variation ID: 156400). 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.
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144483 SCV000189618 pathogenic Fanconi anemia complementation group A 2014-09-18 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.