ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3560+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002903032 SCV003248862 likely pathogenic Fanconi anemia 2023-08-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 35 of the FANCD2 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 FANCD2 are known to be pathogenic (PMID: 17436244). 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: 2041518). This variant has not been reported in the literature in individuals affected with FANCD2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV003464634 SCV004196743 likely pathogenic Fanconi anemia complementation group D2 2023-07-31 criteria provided, single submitter clinical testing

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