ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3847+1G>T (rs863223604)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505728 SCV000250287 likely pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing The c.3847+1G>T variant in the FBN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 29, which is predicted to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.3847+1G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3847+1G>T as a likely pathogenic variant.

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