ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3725-2del (rs1554122858)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599416 SCV000710630 likely pathogenic not provided 2018-02-15 criteria provided, single submitter clinical testing Although the c.3725-2delA variant in the FBN2 gene has not been reported as pathogenic or benign to our knowledge, it destroys the canonical splice acceptor site in intron 28 and is predicted to cause skipping of exon 28. This variant may result in either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Nevertheless, other downstream splice site variants in the FBN2 gene have been reported in HGMD in association with CCA (Stenson et al., 2014). Furthermore, the c.3725-2delA variant is not observed in large population cohorts (Lek et al., 2016).

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