ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.491+1G>A (rs943009372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699836 SCV000828565 likely pathogenic Fanconi anemia 2018-11-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the FANCD2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Fanconi anemia (PMID: 23613520). Donor and acceptor splice site variants 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.
Leiden Open Variation Database RCV001194902 SCV001364764 uncertain significance Fanconi anemia, complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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