ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln) (rs778747291)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498790 SCV000589299 likely pathogenic not provided 2013-05-16 criteria provided, single submitter clinical testing The K1710Q missense change in the ABCA4 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The K1710Q amino acid substitution is non-conservative with a positively charged residue (Lys) being replaced by a neutral residue (Gln). The residue at which this substitution occurs is well conserved across species in the ABCR protein. According to the Human Gene Mutation Database (HGMD), other missense mutations in nearby residues (R1705Q, R1705L, R1705W, Q1713R) have been reported in association with ABCA4-related disorders. The K1710Q 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. Therefore, K1710Q is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be completely excluded.

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