ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) (rs1057520212)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430778 SCV000511906 likely pathogenic not provided 2015-05-26 criteria provided, single submitter clinical testing A novel P1761R variant that is likely pathogenic was identified. It has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The P1761R variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P1761R 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (Y1754D, A1762G, L1763P, L1767P, A1773V, A1773E) have been reported in the Human Gene Mutation Database in association with ABCA4-related disorders (Stenson et al., 2014), 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.

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