Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000853504 | SCV000996437 | likely pathogenic | Fanconi anemia complementation group A | 2019-07-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001241985 | SCV001415043 | likely pathogenic | Fanconi anemia | 2023-07-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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: 692160). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 19367192). This sequence change affects a donor splice site in intron 22 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). |
Gene |
RCV003148887 | SCV003837340 | likely pathogenic | not provided | 2022-08-29 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 19367192) |
Leiden Open Variation Database | RCV000853504 | SCV001425943 | pathogenic | Fanconi anemia complementation group A | 2020-02-28 | no assertion criteria provided | curation | Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards. |