ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) (rs201223321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000225582 SCV000282628 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
GeneDx RCV000481787 SCV000564526 likely pathogenic not provided 2014-05-23 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the ABCA4 gene. The Y856N variant in the ABCA4 gene has not been reported as a pathogenic variant nor as a benign polymorphism to our knowledge. The Y856N variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations.The Y856N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. Missense mutations in nearby residues (D846H, V849A, G851D, A854T) have been reported in the Human Gene Mutation Database in association with Stargardt disease (Lewis et al., 1999; Webster et al., 2001), supporting the functional importance of this region of the protein. Therefore, while this variant is a good candidate for a pathogenic variant, we cannot rule out that it is a rare benign polymorphism.

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