ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) (rs1064797091)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487474 SCV000574698 likely pathogenic not provided 2013-03-27 criteria provided, single submitter clinical testing The P1407L missense change in the ABCA4 gene has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The P1407L amino acid substitution is semi-conservative as both Proline and Leucine are neutral and non-polar residues. However, the loss of a Proline residue with its unique structure may affect the structure of the protein. The residue at which this substitution occurs is well conserved in the ABCR protein and in related proteins across species. The Human Gene Mutation Database reports that other missense mutations in nearby codons (E1399K, H1406R, H1406D, H1406Y, W1408R, W1408L, T1415P) have been reported in association with Stargardt disease. The P1407L mutation 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, P1407L in the ABCA4 gene is interpreted as a novel pathogenic variant.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.