ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.307+1G>C (rs200479612)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037690 SCV001201118 pathogenic Fanconi anemia 2019-12-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the FANCG gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs200479612, ExAC 0.07%). This variant has been observed in individual(s) with Fanconi anemia (PMID: 10807541, 28102861). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 6714). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in FANCG are known to be pathogenic (PMID: 12552564). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007106 SCV000027302 pathogenic Fanconi anemia, complementation group G 2000-01-01 no assertion criteria provided literature only
GeneReviews RCV000007106 SCV000058056 pathologic Fanconi anemia, complementation group G 2011-02-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Open Variation Database RCV000007106 SCV001364810 pathogenic Fanconi anemia, complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Daniel Trujillano, Johan de Winter, Myungshin Kim.

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