ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) (rs1064793006)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000486363 SCV000608482 likely pathogenic not provided 2017-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000486363 SCV000564519 likely pathogenic not provided 2014-09-04 criteria provided, single submitter clinical testing A novel Y603H variant that is likely pathogenic was identified in the ABCA4 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The Y603H variant was not observed in approximately 6,500 individuals of European and African American ancestry in tan external database, indicating it is not a common benign variant in these populations. The Y603H variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is fully conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (G606D, I604S, R602Q, R602W) have been reported in the Human Gene Mutation Database in association with retinal dystrophy and Stargardt disease (Stenson et al., 2009), supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic variant; however, the possibility that it is a benign variant cannot be excluded.

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.