ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.522+1G>T

gnomAD frequency: 0.00001  dbSNP: rs1365019056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674016 SCV000799285 likely pathogenic Fanconi anemia complementation group A 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523013 SCV004284760 likely pathogenic Fanconi anemia 2023-10-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 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 present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with Fanconi Anemia (PMID: 29098742). ClinVar contains an entry for this variant (Variation ID: 557826). 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.

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