ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) (rs371489809)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421632 SCV000511908 likely pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing The Y1858N variant that is likely pathogenic in the ABCA4 gene has not been reported as a pathogenic variant nor as a benign polymorphism to our knowledge. The Y1858N was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI ESP Exome Sequencing Project. This variant has been seen at GeneDx in another patient referred for the Stargardt disease panel analysis. The Y1858N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In addition, another missense variant, a non-conservative substitution, at this residue (Y1858D) has been reported in association with Stargardt disease (Oldani et al., 2012). Therefore, this variant is a strong candidate for a pathogenic variant; however, the possibility that it is a benign variant cannot be excluded.

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