ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.894-2A>G

gnomAD frequency: 0.00001  dbSNP: rs976556567
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673435 SCV000798637 likely pathogenic Fanconi anemia complementation group A 2018-03-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255501 SCV002535079 pathogenic Fanconi anemia 2022-03-18 criteria provided, single submitter curation
Baylor Genetics RCV000673435 SCV004195991 pathogenic Fanconi anemia complementation group A 2024-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002255501 SCV004271256 pathogenic Fanconi anemia 2023-11-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 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 individuals with fanconi anemia (PMID: 15643609, 33224012). ClinVar contains an entry for this variant (Variation ID: 557309). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV000673435 SCV001425917 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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