ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.790C>T (p.Gln264Ter) (rs1353992080)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803831 SCV000943718 pathogenic Fanconi anemia 2018-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln264*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Fanconi anemia (PMID: 24584348, 9399890). This variant is also known as c.790-3C>T in the literature. Experimental studies have shown that this sequence change affects mRNA splicing and may result in the skipping of exon 8 (PMID: 24704046). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.

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