ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.491+1G>A

gnomAD frequency: 0.00001  dbSNP: rs943009372
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699836 SCV000828565 likely pathogenic Fanconi anemia 2024-04-10 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. 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 present in population databases (no rsID available, gnomAD 0.03%). Disruption of this splice site has been observed in individual(s) with Fanconi anemia (PMID: 23613520). ClinVar contains an entry for this variant (Variation ID: 577155). 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.
Revvity Omics, Revvity RCV001194902 SCV002023029 pathogenic Fanconi anemia complementation group D2 2019-03-26 criteria provided, single submitter clinical testing
GeneDx RCV003223671 SCV003919537 likely pathogenic not provided 2022-10-20 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 23613520)
Baylor Genetics RCV001194902 SCV004196714 likely pathogenic Fanconi anemia complementation group D2 2024-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001194902 SCV005656859 pathogenic Fanconi anemia complementation group D2 2024-04-30 criteria provided, single submitter clinical testing
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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