ClinVar Miner

Submissions for variant NM_004629.1(FANCG):c.1077-2A>G (rs769547477)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514018 SCV000609726 pathogenic not provided 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000695845 SCV000824367 pathogenic Fanconi anemia 2019-11-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 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 (rs769547477, ExAC 0.006%). This variant has been observed to be homozygous in several individuals affected with Fanconi anaemia (PMID: 12552564, 28717661, 11093276). This variant has also been reported as IVS8-2A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 445394). Experimental studies have shown that this nucleotide change disrupts FANCG mRNA splicing (PMID:12552564, 11093276). 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.
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000760153 SCV000889968 pathogenic Fanconi anemia, complementation group G 2017-03-31 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV000760153 SCV001364827 pathogenic Fanconi anemia, complementation group G 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Avani P. Solanki, Daniela Pilonetto, Johan de Winter.

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