ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly) (rs1064793007)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481017 SCV000564523 likely pathogenic not provided 2013-08-05 criteria provided, single submitter clinical testing The S728G missense change in the ABCA4 gene has not been reported as a pathogenic variant or as a benign polymorphism, to our knowledge. The S728G amino acid substitution is non-conservative with a polar residue (Ser) being replaced by a non-polar residue (Gly). The residue at which this substitution occurs is conserved in the ABCR protein. According to the Human Gene Mutation Database (HGMD), other missense mutations (T716M and L725I) in nearby residues have been reported as disease-causing mutations (Stenson, 2009). The S728G variant was not observed in approximately 6,500 individuals of European and African American ancestry in an external database, indicating it is not a common benign variant in these populations. Therefore, the S728G missense change 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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