ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000486363 SCV000608482 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074372 SCV001239949 uncertain significance Retinal dystrophy 2019-07-29 criteria provided, single submitter clinical testing

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