ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2778+2T>C

dbSNP: rs1458001028
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671287 SCV000796248 likely pathogenic Fanconi anemia complementation group A 2017-12-08 criteria provided, single submitter clinical testing
Invitae RCV001235351 SCV001408033 pathogenic Fanconi anemia 2024-01-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 28 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 individuals with Fanconi anemia (PMID: 23067021, 24584348, 29098742). ClinVar contains an entry for this variant (Variation ID: 555463). 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.
Baylor Genetics RCV000671287 SCV004196001 pathogenic Fanconi anemia complementation group A 2023-10-16 criteria provided, single submitter clinical testing

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