ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3051-16T>A (rs1064793009)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486062 SCV000564527 likely pathogenic not provided 2013-03-07 criteria provided, single submitter clinical testing The c.3051-16 T>A variant in the ABCA4 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The c.3051-16 T>A variant was not observed in approximately 6,200 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. Splice prediction algorithms indicate that the c.3051-16 T>A variant will either destroy the splice acceptor site or create a cryptic splice site that may weaker than the natural splice acceptor site. Therefore, the c.3051-16 T>A variant is a candidate for a pathogenic variant, although the possibility that it is a benign variant cannot be completely excluded.

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