Total submissions: 4
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, |
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, |
RCV000144483 | SCV000189618 | pathogenic | Fanconi anemia complementation group A | 2014-09-18 | no assertion criteria provided | clinical testing |