ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1480+1G>C (rs149616199)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630837 SCV000751806 pathogenic Fanconi anemia 2019-07-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 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 (rs149616199, ExAC 0.004%). This variant has been observed on the opposite chromosome (in trans) from other pathogenic and likely pathogenic variants in individuals affected with Fanconi anemia, complementation group G (PMID: 9806548, 12552564). Furthermore, this variant has been described as a founder French-Canadian pathogenic variant (PMID: 9806548, 12552564, 22778927, 20301575). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. This variant is also known as IVS11+1G>C in the literature. ClinVar contains an entry for this variant (Variation ID: 6717). 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.
Fulgent Genetics,Fulgent Genetics RCV000007109 SCV000894466 pathogenic Fanconi anemia, complementation group G 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000007109 SCV000027305 pathogenic Fanconi anemia, complementation group G 2003-02-01 no assertion criteria provided literature only
GeneReviews RCV000007109 SCV000058054 pathologic Fanconi anemia, complementation group G 2011-02-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Open Variation Database RCV000007109 SCV001364837 pathogenic Fanconi anemia, complementation group G 2011-02-07 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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