ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) (rs61750146)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763043 SCV000893524 likely pathogenic Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000085637 SCV000321351 pathogenic not provided 2016-10-12 criteria provided, single submitter clinical testing The C1488R pathogenic variant in the ABCA4 gene has been published previously in association with Stargardt disease (Lewis et al., 1999; Briggs et al., 2001; Webster et al., 2001). The 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. C1488R 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. Functional studies have shown that C1488R results in lowered ATPase activity compared to wild type (Sun et al., 2000). Missense variants in the same codon (C1488Y/F) and in nearby residues (P1486L, C1490Y) have been reported in the Human Gene Mutation Database in association with Stargardt disease (Stenson et al., 2014), supporting the functional importance of this region of the protein.
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408472 SCV000281892 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085637 SCV000117776 not provided not provided no assertion provided not provided

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