ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3224+1G>T

dbSNP: rs1468320596
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997939 SCV001153713 likely pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784532 SCV002017713 likely pathogenic Fanconi anemia complementation group D2 2019-04-23 criteria provided, single submitter clinical testing
Invitae RCV001869401 SCV002292601 likely pathogenic Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 32 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Fanconi anemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 809378). 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.
Fulgent Genetics, Fulgent Genetics RCV001784532 SCV002784782 likely pathogenic Fanconi anemia complementation group D2 2021-09-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001784532 SCV004196722 likely pathogenic Fanconi anemia complementation group D2 2023-09-28 criteria provided, single submitter clinical testing

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